Bilateral congenital or childhood onset cataracts
Gene: FOXE3

FOXE3 (forkhead box E3)
EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 12 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Review of mode of inheritance confirms that there are both biallelic and monoallelic cases with FOXE3 variants where cataracts are reported. See full review of MOI on the Structural eye disease panel https://panelapp.genomicsengland.co.uk/panels/509/gene/FOXE3/
Created: 9 Sep 2021, 10:12 a.m. | Last Modified: 9 Sep 2021, 10:12 a.m.

Panel Version: 2.80

Created: 9 Sep 2021, 10:12 a.m.
Last Modified: 9 Sep 2021, 10:12 a.m.
Panel version: 2.80

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Dominant mutations reported in at least 3 familes with AD cataracts. Recessive mutations associated with Peter's anomaly, microphthalmia.
Created: 25 May 2016, 8:10 a.m.

Publications

Iseri et al (2009) Hum Mutat 30:1378-1386
Semina et al (2001) Hum Mol Genet 10:231-236
Br mond-Gignac et al (2010) Mol Vis 16:1705-1711.

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 May 2016, 8:10 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Promoted to green due to expert review and comments.
Created: 31 May 2016, 9:36 a.m.

Is on the Manchester congenital cataracts gene panel.
Created: 29 Apr 2016, 11:41 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 29 Apr 2016, 11:41 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN

Phenotypes

Cataract 34, multiple types, OMIM:612968
cataract 34 multiple types, MONDO:0013067
Peter's anomaly
microphthalmia.

OMIM

601094

Clinvar variants

Variants in FOXE3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: FOXE3 were set to Iseri et al (2009) Hum Mutat 30:1378-1386; Semina et al (2001) Hum Mol Genet 10:231-236; Br mond-Gignac et al (2010) Mol Vis 16:1705-1711.

9 Sep 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FOXE3 were changed from Autosomal dominant cataracts; Peter's anomaly, microphthalmia. to Cataract 34, multiple types, OMIM:612968; cataract 34 multiple types, MONDO:0013067; Peter's anomaly; microphthalmia.

9 Sep 2021, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 May 2016, Gel status: 4