Eleanor Williams Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Ocular anterior segment dysgenesis, HP:0007700
Eleanor Williams Added comment: Comment 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/.
Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal