Differences of Sex Development
Gene: NR5A1
Rare reports of biallelic variants (hmz). RED/AMBER for this MOI.Created: 3 Mar 2025, 2:15 a.m. | Last Modified: 3 Mar 2025, 2:15 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
46XY sex reversal 3, (MIM#612965)
Publications
188 variants from 238 cases. No genotype-phenotype correlation establisedCreated: 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
Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NR5A1 were set to 31513305
Gene: nr5a1 has been classified as Green List (High Evidence).
Phenotypes for gene: NR5A1 were changed from to 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 for gene: NR5A1 were set to
Mode of inheritance for gene: NR5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: NR5A1 was added gene: NR5A1 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NR5A1 was set to Unknown