Ocular colobomaGene: FOXE3
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
Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Promoted to version 1 on 6th February 2016 by Alice Gardham
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FOXE3 was added to Ocular colobomapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
FOXE3 was created by agardham