Disorders of sex development
Gene: NR3C1
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
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
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 listCreated: 15 Jul 2020, 1:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glucocorticoid resistance (MIM#615962)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: NR3C1.
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)
Publications for gene: NR3C1 were set to 30158362; 31995340; 19933394; 7683692; 11932321; 31145715
Mode of inheritance for gene: NR3C1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: NR3C1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: NR3C1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR3C1 were set to 30158362
Gene: nr3c1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: NR3C1.
Phenotypes for gene: NR3C1 were changed from Glucocorticoid resistance (MIM#615962) to Glucocorticoid resistance, OMIM:615962
gene: NR3C1 was added gene: NR3C1 was added to Disorders of sex development. Sources: Expert list Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR3C1 were set to 30158362 Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance (MIM#615962) Review for gene: NR3C1 was set to GREEN gene: NR3C1 was marked as current diagnostic