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  3. NR3C1
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Renal Tubulopathies and related disorders

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 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hurley et al. (1991) identified a heterozygous missense mutation in the GCR gene (D641V) in affected members of the kindred originally reported by Vingerhoeds et al. (1976) with generalized glucocorticoid deficiency.

Karl et al. (1993) identified heterozygosity for a 4-bp deletion in the GCR gene in all 3 affected members of a Dutch kindred with glucocorticoid resistance.

Bray and Cotton (2003) stated that a total of 15 missense, 3 nonsense, 3 frameshift, 1 splice site, and 2 alternatively spliced mutations had been reported in the NR3C1 gene to be associated with glucocorticoid resistance.

Hyperandrogenism also presents with features of ambiguous genitalia, precocious puberty, advanced bone age, infertility, amenorrhea, clitoromegaly, oligospermia.
Created: 10 Mar 2021, 9:56 a.m. | Last Modified: 10 Mar 2021, 9:56 a.m.
Panel Version: 0.6653

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glucocorticoid resistance, OMIM # 615962

Publications

Created: 10 Mar 2021, 9:56 a.m.
Last Modified: 10 Mar 2021, 9:56 a.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version 0.6653

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Hurley et al. (1991) identified a heterozygous missense mutation in the GCR gene (D641V) in affected members of the kindred originally reported by Vingerhoeds et al. (1976) with generalized glucocorticoid deficiency.

Karl et al. (1993) identified heterozygosity for a 4-bp deletion in the GCR gene in all 3 affected members of a Dutch kindred with glucocorticoid resistance.

Bray and Cotton (2003) stated that a total of 15 missense, 3 nonsense, 3 frameshift, 1 splice site, and 2 alternatively spliced mutations had been reported in the NR3C1 gene to be associated with glucocorticoid resistance. Sixteen polymorphisms in the gene had also been reported.
Sources: Literature
Created: 10 Mar 2021, 4:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glucocorticoid resistance, OMIM # 615962

Publications

Created: 10 Mar 2021, 4:12 a.m.

Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid resistance, OMIM # 615962
OMIM
138040
Clinvar variants
Variants in NR3C1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NR3C1 was added gene: NR3C1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR3C1 were set to 12754700, 1704018, 8445027, 31995340 Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962