Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FOXL2

Green List (high evidence)

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, 1:41 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100
  • Premature ovarian failure 3,608996
OMIM
605597
Clinvar variants
Variants in FOXL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: foxl2 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FOXL2 were set to

17 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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