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Newborns main panel

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 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:7979
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant
OMIM
600983
Clinvar variants
Variants in NR3C2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism type I, autosomal dominant for gene: NR3C2

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism type I, autosomal dominant for gene: NR3C2

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NR3C2. Added phenotypes Pseudohypoaldosteronism type I, autosomal dominant for gene: NR3C2 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to NR3C2. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism type I, autosomal dominant for gene: NR3C2

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NR3C2 was added gene: NR3C2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown