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  3. NR3C1
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Differences of Sex Development

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Sufficient evidence for gene disease association, which includes 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.
Created: 14 Jul 2020, 11:53 p.m. | Last Modified: 14 Jul 2020, 11:53 p.m.
Panel Version: 0.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Glucocorticoid resistance (MIM#615962)

Publications

Created: 14 Jul 2020, 11:53 p.m.
Last Modified: 14 Jul 2020, 11:53 p.m.
Panel version: 0.69

Details

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

History Filter Activity

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr3c1 has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR3C1 were changed from to Glucocorticoid resistance (MIM#615962)

15 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR3C1 were set to

15 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NR3C1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NR3C1 was added gene: NR3C1 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NR3C1 was set to Unknown