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Glaucoma (developmental)
Gene: FOXE3

FOXE3 (forkhead box E3)
EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 12 panels

5 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Only one report on a monoallelic case where glaucoma specified as part of the phenotype (PMID: 11980846 - Ormestad et al 2002 - one individual with Peters anomaly (with eccentric corneal opacities and glaucoma but not cataract) was found to be heterozygous for a nonconservative missense mutation in FOXE3) and so leaving the mode of inheritance as biallelic only for now.
Created: 9 Sep 2021, 10:18 a.m. | Last Modified: 9 Sep 2021, 10:18 a.m.

Panel Version: 1.39

Created: 9 Sep 2021, 10:18 a.m.
Last Modified: 9 Sep 2021, 10:18 a.m.
Panel version: 1.39

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

DB Many families with microphthalmia, and anterior segment disorders published. Heterozygous non-stop variants have been reported
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anterior segment dysgenesis 2, multiple subtypes 610256; Anterior segment mesenchymal dysgenesis 107250

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Many families with microphthalmia, and anterior segment disorders published. Heterozygous non-stop variants have been reported
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anterior segment dysgenesis 2, multiple subtypes 610256; Anterior segment mesenchymal dysgenesis 107250

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.38

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Feedback from Arianna Tucci: PMID: 27218149 FOXE3 is associated with developmental glaucoma -can be made green.

Created: 26 Apr 2017, 8:49 a.m.

Comment on list classification: Green gene in the Anophthalmia/microphthamia version 1.4, Cataracts version 1.8, and Ocular coloboma version 1.4 gene panels. Confirmed DD gene for ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS and >3 families reported for this disease, however unsure whether this should be included on the glaucoma panel.
Created: 12 Apr 2017, 3:12 p.m.

Created: 12 Apr 2017, 3:11 p.m.

Panel version: 0.53

Chris Campbell (NHS)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anterior segment mesenchymal dysgenesis; aphakia

Publications

2557
4057

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Mar 2017, 3:58 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Emory Genetics Laboratory

Phenotypes

Anterior segment dysgenesis 2, multiple subtypes 610256

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

27 Apr 2017, Gel status: 4