Ocular coloboma
Gene: FOXE3

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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Review of mode of inheritance - two reports of coloboma in monoallelic cases from one publication but leaving inheritance as biallelic for now until a 3rd case is reported (PMID: 19708017 - Iseri et al 2009 - identified 2 pedigrees with dominant mutations in the FOXE3 gene by screening a large cohort of 236 anophthalmia-microphthalmia subjects; one with anterior segment anomalies, including Peters’ anomaly, early onset cataract, and coloboma, and another with microphthalmia, coloboma, and cerulean type (blue dot) cataracts.).
Created: 9 Sep 2021, 10:36 a.m. | Last Modified: 9 Sep 2021, 10:36 a.m.

Panel Version: 1.44

Created: 9 Sep 2021, 10:36 a.m.
Last Modified: 9 Sep 2021, 10:36 a.m.
Panel version: 1.44

Alice Gardham (Genomics England)

Comment when marking as ready: Coloboma sometimes associated
Created: 16 Nov 2016, 1:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anterior segment mesenchymal dysgenesis 107250

Publications

24859618, 19708017

Created: 16 Nov 2016, 1:45 p.m.

Panel version: 0.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

Anterior segment mesenchymal dysgenesis 107250

OMIM

601094

Clinvar variants

Variants in FOXE3

Penetrance

Complete

Publications

24859618, 19708017

Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

6 Feb 2017, Gel status: 4