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  3. FOXE3
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Anophthalmia or microphthalmia

Gene: FOXE3

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

3 reviews

Eleanor Williams (Genomics England Curator)

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/.
Created: 9 Sep 2021, 11:06 a.m. | Last Modified: 9 Sep 2021, 11:06 a.m.
Panel Version: 1.41
Created: 9 Sep 2021, 11:06 a.m.
Last Modified: 9 Sep 2021, 11:06 a.m.
Panel version: 1.41

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and lit review: http://www.ncbi.nlm.nih.gov/pubmed/20140963
Created: 10 May 2016, 12:02 p.m.
Created: 10 May 2016, 12:02 p.m.

Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256
  • Ocular anterior segment dysgenesis, HP:0007700
OMIM
601094
Clinvar variants
Variants in FOXE3
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Ocular anterior segment dysgenesis, HP:0007700

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

10 May 2016, Gel status: 1

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for FOXE3 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FOXE3 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory