Primary ovarian insufficiency
Gene: FOXL2Clear POI phenotypeCreated: 9 Jun 2017, 2:51 p.m.
Comment when marking as ready: Marked as green as associated with syndromic forms of POICreated: 22 May 2017, 8:50 a.m.
Associated with nonsyndromic premature ovarian failure in OMIM, 3 variants described. Also allelic to blepharophimosis/ptosis/epicanthus inversus syndrome (BPES; 110100). There are 2 forms of BPES. In type I, eyelid abnormalities are associated with ovarian failure. In type II, only the eyelid defects are found.Created: 10 May 2017, 12:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian failure 3, 608996; Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100
Publications
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Green List (High Evidence).
Publications for FOXL2 were set to 21146150; 20222838; 12149404; 19429596
Mode of inheritance for FOXL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for FOXL2 were set to 21146150; 20222838; 12149404; 19429596
Mode of inheritance for FOXL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
FOXL2 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other Model of inheritance for gene FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FOXL2 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
FOXL2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
FOXL2 was created by ellenmcdonagh