Ocular coloboma

Gene: FOXE3

Green List (high evidence)

FOXE3 (forkhead box E3)
EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 14 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

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

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
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

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

16 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

FOXE3 was added to Ocular colobomapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

FOXE3 was created by agardham