Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: NR5A1
188 variants reported in 238 cases. No genotype-phenotype correlation established.Created: 19 Oct 2020, 9:10 a.m. | Last Modified: 19 Oct 2020, 9:10 a.m.
Panel Version: 0.5046
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
Gene: nr5a1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: NR5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR5A1 were set to
Source Genetic Health QLD was added to NR5A1. Mode of inheritance for gene NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
gene: NR5A1 was added gene: NR5A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NR5A1 were set to Spermatogenic failure 8,613957; 46XY sex reversal 3,612965; Premature ovarian failure 7,612964