Previous symbols: FKHL12. Aliases: FREAC8.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Isolated Anophthalmia-Microphthalmia Syndrome | causative |
mechanism: Eye Field Transcription Factor Network Dosage Loss
|
| Familial Thoracic Aortic Aneurysm and Aortic Dissection |
untyped
HTAD smooth muscle cell survival and differentiation gene
germline
|
mechanism: FOXE3 loss and aortic smooth muscle cell depletion
|
| FOXE3-Related Anterior Segment Dysgenesis |
untyped
Causative
|
mechanism: Failed Lens Placode Induction and Differentiation
subtype: Congenital Cataract; Primary Aphakia
|
| Microphthalmia with Coloboma |
untyped
Causal variant
|
mechanism: Disrupted optic-cup and globe morphogenesis
subtype: FOXE3-MAC
scoped to subtype: FOXE3-MAC
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| anterior segment dysgenesis MONDO:0019503 | SD | Definitive 2023-07-20 |
|
| familial thoracic aortic aneurysm and aortic dissection MONDO:0019625 | AD | Limited 2026-06-19 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.