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  3. FOXL2
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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 6 panels

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

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

Panel version: 1.0

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

Created: 10 May 2017, 12:49 p.m.

Panel version: 0.6

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

Created: 13 Jun 2016, 2:36 p.m.

Panel version: 0.2

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