Primary ovarian insufficiency
Gene: NANOS3Comment on publications: Added new publication.Created: 14 May 2021, 1:38 p.m. | Last Modified: 14 May 2021, 1:38 p.m.
Panel Version: 1.40
A homozygous missense (p.Glu120Lys) was identified in two Brazillian sisters with primary amenorrhea, and supporting in vitro functional assays. A heterozygous missense (p.Arg153Trp) was identified in a Chinese woman with POI, with supporting in vitro functional assays. Also, supporting null mouse model.Created: 7 Jan 2021, 8:44 a.m. | Last Modified: 7 Jan 2021, 8:44 a.m.
Panel Version: 1.19
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency
Publications
One hmz mutation in two sisters with POI described.Created: 9 Jun 2017, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Comment when marking as ready: Marked as amber as only one mutation reportedCreated: 30 May 2017, 12:10 p.m.
One missense variant reported in non syndromic POI in a chinese study
Created: 26 May 2017, 11 a.m.
Publications for gene: NANOS3 were set to 24091668; 25054146; 28076512
Publications for gene: NANOS3 were set to 24091668; 25054146
Publications for gene: NANOS3 were set to 24091668
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
NANOS3 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
NANOS3 was created by arianna