Differences of Sex Development
Gene: NR5A1

NR5A1 (nuclear receptor subfamily 5 group A member 1)
EnsemblGeneIds (GRCh38): ENSG00000136931
EnsemblGeneIds (GRCh37): ENSG00000136931
OMIM: 184757, Gene2Phenotype
NR5A1 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

188 variants from 238 cases. No genotype-phenotype correlation establised
Created: 19 Oct 2020, 5:28 a.m. | Last Modified: 19 Oct 2020, 5:28 a.m.

Panel Version: 0.172

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adrenocortical insufficiency, (MIM#612964); 46, XX sex reversal 4, (MIM# 617480); Premature ovarian failure 7, (MIM#612964); Spermatogenic failure 8, (MIM#613957); 46XY sex reversal 3, (MIM#612965)

Publications

31513305

Created: 19 Oct 2020, 5:27 a.m.
Last Modified: 19 Oct 2020, 5:27 a.m.
Panel version: 0.172

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Adrenocortical insufficiency, (MIM#612964)
46, XX sex reversal 4, (MIM# 617480)
Premature ovarian failure 7, (MIM#612964)
Spermatogenic failure 8, (MIM#613957)
46XY sex reversal 3, (MIM#612965)

OMIM

184757

Clinvar variants

Variants in NR5A1

Penetrance

None

Publications

31513305

Panels with this gene