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Fetal anomalies

Gene: FOXE3

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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Monoallleic cases related to Aortic aneurysm, familial thoracic 11, susceptibility to and to some cases with an eye phenotype. Biallelic cases associated with an eye phenotype.
Created: 9 Sep 2021, 11:10 a.m. | Last Modified: 9 Sep 2021, 11:10 a.m.
Panel Version: 1.711
Created: 9 Sep 2021, 11:10 a.m.
Last Modified: 9 Sep 2021, 11:10 a.m.
Panel version: 1.711

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for CONGENITAL PRIMARY APHAKIA and Confirmed for ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS.
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256
  • Cataract 34, multiple types, OMIM:612968
  • {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
  • ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
OMIM
601094
Clinvar variants
Variants in FOXE3
Penetrance
None
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 Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS

9 Sep 2021, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Sep 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FOXE3 were changed from ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS for gene: FOXE3

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FOXE3 was added gene: FOXE3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA