FOXE3 Chromosome 1
Forkhead box E3
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What This Gene Does
This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
1p33
Ensembl
ENSG00000186790
Associated Conditions (12)
Cardiovascular phenotype
Congenital primary aphakia
Anterior segment dysgenesis
FOXE3-related disorder
Aortic aneurysm
familial thoracic 11
susceptibility to
Congenital aneurysm of ascending aorta
Acute aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Cataract 34 multiple types
Irido-corneo-trabecular dysgenesis
Key Variants
RS12724260
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis
Health Risk
RS1350653181
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Anterior segment dysgenesis, Congenital primary aphakia
Health Risk
RS1646884829
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis
Health Risk
RS201955081
Conflicting classifications of pathogenicity
Congenital primary aphakia, Anterior segment dysgenesis, Cardiovascular phenotype
Health Risk
RS2124043258
Conflicting classifications of pathogenicity
Anterior segment dysgenesis, Congenital primary aphakia, Cardiovascular phenotype
Health Risk
RS2124045053
Conflicting classifications of pathogenicity
Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia
Health Risk
RS367943249
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 11, susceptibility to
Health Risk
RS544902810
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis
Health Risk
RS560327746
Conflicting classifications of pathogenicity
Anterior segment dysgenesis, Congenital primary aphakia, Cardiovascular phenotype
Health Risk
RS746531116
Conflicting classifications of pathogenicity
Congenital primary aphakia, Anterior segment dysgenesis, FOXE3-related disorder
Health Risk
RS747040897
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis
Health Risk
RS747148416
Conflicting classifications of pathogenicity
Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12724260 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis |
| RS1350653181 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Anterior segment dysgenesis, Congenital primary aphakia |
| RS1646884829 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis |
| RS201955081 | Health Risk | Conflicting classifications of pathogenicity | Congenital primary aphakia, Anterior segment dysgenesis, Cardiovascular phenotype |
| RS2124043258 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis, Congenital primary aphakia, Cardiovascular phenotype |
| RS2124045053 | Health Risk | Conflicting classifications of pathogenicity | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS367943249 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 11, susceptibility to |
| RS544902810 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis |
| RS560327746 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis, Congenital primary aphakia, Cardiovascular phenotype |
| RS746531116 | Health Risk | Conflicting classifications of pathogenicity | Congenital primary aphakia, Anterior segment dysgenesis, FOXE3-related disorder |
| RS747040897 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis |
| RS747148416 | Health Risk | Conflicting classifications of pathogenicity | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS755377651 | Health Risk | Conflicting classifications of pathogenicity | Congenital primary aphakia, Anterior segment dysgenesis, Cardiovascular phenotype |
| RS758322369 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis |
| RS771078208 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis |
| RS886042525 | Health Risk | Conflicting classifications of pathogenicity | Congenital primary aphakia, Anterior segment dysgenesis, Cardiovascular phenotype |
| RS916755482 | Health Risk | Conflicting classifications of pathogenicity | Congenital primary aphakia, Anterior segment dysgenesis, Cardiovascular phenotype |
| RS928328635 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis |
| RS946810051 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis |
| RS1646883385 | Health Risk | Likely pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS1646884931 | Health Risk | Likely pathogenic | Congenital primary aphakia, Congenital primary aphakia |
| RS2124042297 | Health Risk | Likely pathogenic | Congenital primary aphakia, Congenital primary aphakia |
| RS2124042660 | Health Risk | Likely pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS2124042965 | Health Risk | Likely pathogenic | — |
| RS2521318388 | Health Risk | Likely pathogenic | FOXE3-related disorder, FOXE3-related disorder |
| RS2521322039 | Health Risk | Likely pathogenic | — |
| RS750769299 | Health Risk | Likely pathogenic | — |
| RS772347736 | Health Risk | Likely pathogenic | Congenital primary aphakia, Congenital primary aphakia |
| RS774505755 | Health Risk | Likely pathogenic | Congenital primary aphakia, Congenital primary aphakia |
| RS1057518738 | Health Risk | Pathogenic | Cataract 34 multiple types, Cataract 34 multiple types |
| RS1167122307 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS1176723126 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS1325345116 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS1464817302 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS1465921700 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS1570406175 | Health Risk | Pathogenic | Congenital primary aphakia, Congenital primary aphakia |
| RS2124041750 | Health Risk | Pathogenic | Congenital primary aphakia, Congenital primary aphakia |
| RS2124043339 | Health Risk | Pathogenic | Congenital primary aphakia, Congenital primary aphakia |
| RS2124045186 | Health Risk | Pathogenic | Cataract 34 multiple types, Cataract 34 multiple types |
| RS2521317897 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS2521321688 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS2521323759 | Health Risk | Pathogenic | Congenital primary aphakia, Congenital primary aphakia |
| RS387906793 | Health Risk | Pathogenic | Congenital primary aphakia, Cataract 34 multiple types, Congenital primary aphakia |
| RS762006562 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS80358194 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Irido-corneo-trabecular dysgenesis |
| RS958241794 | Health Risk | Pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |
| RS1035206433 | Health Risk | Pathogenic/Likely pathogenic | Anterior segment dysgenesis, Congenital primary aphakia, Anterior segment dysgenesis |
| RS377669670 | Health Risk | Pathogenic/Likely pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Cardiovascular phenotype |
| RS958293767 | Health Risk | Pathogenic/Likely pathogenic | Congenital primary aphakia, Anterior segment dysgenesis, Congenital primary aphakia |