Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:47882391
- GRCh38:
- Chr1:47416719
| FOXE3, LINC01389 | E135G | Cardiovascular phenotype, Congenital primary aphakia, Ocular anterior segment dysgenesis,
Aortic aneurysm, familial thoracic 11, susceptibility to | Uncertain significance
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:47882397
- GRCh38:
- Chr1:47416725
| FOXE3, LINC01389 | G137D | Aortic aneurysm, familial thoracic 11, susceptibility to, Congenital aneurysm of ascending aorta, Acute aortic dissection
| Likely pathogenic; risk factor
(Jan 6, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:47882444
- GRCh38:
- Chr1:47416772
| LINC01389, FOXE3 | D153H | Congenital primary aphakia, Ocular anterior segment dysgenesis, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity
(Nov 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:47882497
- GRCh38:
- Chr1:47416825
| LINC01389, FOXE3 | | Congenital primary aphakia, Aortic aneurysm, familial thoracic 11, susceptibility to, Cataract 34 multiple types,
Cardiovascular phenotype, Congenital primary aphakia, Ocular anterior segment dysgenesis,
not specified, not provided | Benign
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |