Blepharophimosis
Gene: FOXL2

FOXL2 (forkhead box L2)
EnsemblGeneIds (GRCh38): ENSG00000183770
EnsemblGeneIds (GRCh37): ENSG00000183770
OMIM: 605597, Gene2Phenotype
FOXL2 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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, 1:40 a.m. | Last Modified: 30 Sep 2020, 1:48 a.m.

Panel Version: 0.15

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

Created: 30 Sep 2020, 1:40 a.m.
Last Modified: 30 Sep 2020, 1:48 a.m.
Panel version: 0.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)

OMIM

605597

Clinvar variants

Variants in FOXL2

Penetrance

None

Publications

Panels with this gene