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Ocular coloboma v1.44 FOXE3 Eleanor Williams Added comment: 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.).
Ocular coloboma v1.44 FOXE3 Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ocular coloboma FOXE3 Alice Gardham classified FOXE3 as green
Ocular coloboma FOXE3 Alice Gardham marked FOXE3 as ready
Ocular coloboma FOXE3 Alice Gardham added FOXE3 to panel
Ocular coloboma FOXE3 Alice Gardham reviewed FOXE3