Cataracts

Gene: FOXE3

Green List (high evidence)

FOXE3 (forkhead box E3)
EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 13 panels

2 reviews

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

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Autosomal dominant cataracts
  • Peter's anomaly, microphthalmia.
OMIM
601094
Clinvar variants
Variants in FOXE3
Penetrance
Complete
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.
Panels with this gene

History Filter Activity

31 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for 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.

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FOXE3 were set to Autosomal dominant cataracts; Peter's anomaly, microphthalmia.

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FOXE3 was added to Cataractspanel. Sources: UKGTN