Primary ovarian insufficiency

Gene: NANOS3

Amber List (moderate evidence)

NANOS3 (nanos C2HC-type zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000187556
EnsemblGeneIds (GRCh37): ENSG00000187556
OMIM: 608229, Gene2Phenotype
NANOS3 is in 1 panel

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

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

Arianna Tucci (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency
OMIM
608229
Clinvar variants
Variants in NANOS3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

NANOS3 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

25 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

NANOS3 was created by arianna