Glaucoma (developmental)
Gene: FOXE3Comment on mode of inheritance: Only one report on a monoallelic case where glaucoma specified as part of the phenotype (PMID: 11980846 - Ormestad et al 2002 - one individual with Peters anomaly (with eccentric corneal opacities and glaucoma but not cataract) was found to be heterozygous for a nonconservative missense mutation in FOXE3) and so leaving the mode of inheritance as biallelic only for now.Created: 9 Sep 2021, 10:18 a.m. | Last Modified: 9 Sep 2021, 10:18 a.m.
Panel Version: 1.39
DB Many families with microphthalmia, and anterior segment disorders published. Heterozygous non-stop variants have been reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment dysgenesis 2, multiple subtypes 610256; Anterior segment mesenchymal dysgenesis 107250
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Many families with microphthalmia, and anterior segment disorders published. Heterozygous non-stop variants have been reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment dysgenesis 2, multiple subtypes 610256; Anterior segment mesenchymal dysgenesis 107250
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Feedback from Arianna Tucci: PMID: 27218149 FOXE3 is associated with developmental glaucoma -can be made green.
Created: 26 Apr 2017, 8:49 a.m.
Comment on list classification: Green gene in the Anophthalmia/microphthamia version 1.4, Cataracts version 1.8, and Ocular coloboma version 1.4 gene panels. Confirmed DD gene for ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS and >3 families reported for this disease, however unsure whether this should be included on the glaucoma panel.Created: 12 Apr 2017, 3:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment mesenchymal dysgenesis; aphakia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for FOXE3 were set to 11159941;16826526;20361012;21150893;27218149
Mode of inheritance for FOXE3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for FOXE3 were set to Anterior segment dysgenesis 2, multiple subtypes 610256
This gene has been classified as Amber List (Moderate Evidence).
FOXE3 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory