Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FOXL2
PMID: 31077882; >100 probands reported, AD.
PMID: 18642388;
BPES type I : Mutations predicted to result in proteins with truncation before the poly-Ala tract
BPES type II: poly-Ala expansions (WT poly-Ala is between aa 221-234)
Exceptions: Truncated proteins with complete forkhead and poly-Ala domains, can be either Type I and II
NOTE: only 1 family reported for AR (PMID: 17089161)Created: 30 Sep 2020, 1:41 a.m. | Last Modified: 30 Sep 2020, 1:49 a.m.
Panel Version: 0.4664
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)
Publications
Gene: foxl2 has been classified as Green List (High Evidence).
Publications for gene: FOXL2 were set to
gene: FOXL2 was added gene: FOXL2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXL2 were set to Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100; Premature ovarian failure 3,608996