Primary ovarian insufficiency

Gene: NANOS3

Comment 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

I don't know

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

• 25054146
• 24091668

I don't know

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

• 25054146

Comment when marking as ready: Marked as amber as only one mutation reported

Created: 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.