Bilateral congenital or childhood onset cataracts
Gene: FOXE3Comment 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
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
Variants in this GENE are reported as part of current diagnostic practice
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
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.
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.
Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for FOXE3 were set to Autosomal dominant cataracts; Peter's anomaly, microphthalmia.
Mode of inheritance for FOXE3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FOXE3 was added to Cataractspanel. Sources: UKGTN