Primary ovarian insufficiency

Gene: FOXL2

Green List (high evidence)

FOXL2 (forkhead box L2)
EnsemblGeneIds (GRCh38): ENSG00000183770
EnsemblGeneIds (GRCh37): ENSG00000183770
OMIM: 605597, Gene2Phenotype
FOXL2 is in 4 panels

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Clear POI phenotype
Created: 9 Jun 2017, 2:51 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as associated with syndromic forms of POI
Created: 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

Ellen McDonagh (Genomics England Curator)

This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.
Created: 13 Jun 2016, 2:39 p.m.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • BPES, premature ovarian failure
  • Premature ovarian failure 3,608996
  • Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100
OMIM
605597
Clinvar variants
Variants in FOXL2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for FOXL2 were set to 21146150; 20222838; 12149404; 19429596

22 May 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for FOXL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for FOXL2 were set to 21146150; 20222838; 12149404; 19429596

22 May 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for FOXL2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jun 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXL2 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXL2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FOXL2 was created by ellenmcdonagh