Differences in sex development
Gene: NR3C1

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 4:46 p.m. | Last Modified: 31 Jan 2023, 4:46 p.m.

Panel Version: 3.2

Created: 31 Jan 2023, 4:46 p.m.
Last Modified: 31 Jan 2023, 4:46 p.m.
Panel version: 3.2

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Created: 18 Mar 2021, 4:30 p.m. | Last Modified: 18 Mar 2021, 4:33 p.m.

Panel Version: 2.43

Created: 18 Mar 2021, 4:30 p.m.
Last Modified: 18 Mar 2021, 4:33 p.m.
Panel version: 2.39

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Features include hyperandrogenism with features of ambiguous genitalia, precocious puberty, advanced bone age, infertility, amenorrhea, clitoromegaly, oligospermia. PMID: 30158362: Review of >5 patients reported with the associated phenotype.
Sources: Expert list
Created: 15 Jul 2020, 1:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glucocorticoid resistance (MIM#615962)

Publications

30158362

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jul 2020, 1:23 a.m.

Panel version: 2.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

Glucocorticoid resistance, OMIM:615962

OMIM

138040

Clinvar variants

Variants in NR3C1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from gene: NR3C1.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NR3C1. Source NHS GMS was added to NR3C1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Mar 2021, Gel status: 2