Primary ovarian insufficiency
Gene: TWNK
Clear evidence of involvement n POI from recent papers about Perrault syndromeCreated: 9 Jun 2017, 1:53 p.m.
Clear evidence from papers and reviews for POI.Created: 9 Jun 2017, 1:52 p.m.
Comment when marking as ready: HGNC Approved Gene Symbol: TWNKCreated: 22 May 2017, 10:16 a.m.
Comment when marking as ready: Marked as green as biallelic mutations cause Perrault syndrome, of which POI is a featureCreated: 22 May 2017, 9:12 a.m.
ovarian dysfunction can be a feature of Perrault syndromeCreated: 19 May 2017, 1:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 5, 616138
Publications
C10orf2 was changed to TWNK
new-gene-name was removed from C10orf2. Panel: Early onset familial premature ovarian insufficiency
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
C10orf2 was created by arianna
C10orf2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature