Anophthalmia or microphthalmia
Gene: FOXE3Comment on mode of inheritance: Only 1 monoallelic case reported with microphthalmia so leaving the mode of inheritance as biallelic for now (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). See full review on on the Structural eye disease panel for all monoallelic cases https://panelapp.genomicsengland.co.uk/panels/509/gene/FOXE3/.Created: 9 Sep 2021, 11:06 a.m. | Last Modified: 9 Sep 2021, 11:06 a.m.
Panel Version: 1.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expert and lit review: http://www.ncbi.nlm.nih.gov/pubmed/20140963Created: 10 May 2016, 12:02 p.m.
Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Ocular anterior segment dysgenesis, HP:0007700
Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FOXE3 was changed to BIALLELIC, autosomal or pseudoautosomal
FOXE3 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory