Previous symbols: BPES. Aliases: BPES1.
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 |
|---|---|---|
| Testicular Sex Cord-Stromal Neoplasm | somatic driver somatic |
mechanism: FOXL2 C134W Neomorphic Transcription Factor Activity
subtype: Granulosa Cell Tumor
|
| Adult Granulosa Cell Tumor of Ovary |
untyped
Pathognomonic somatic missense driver mutation c.402C>G (p.C134W); present in 97-99% of adult-type granulosa cell tumors and used as a diagnostic test.
somatic
|
|
| Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome |
untyped
Causative
|
mechanism: FOXL2 dysfunction in ovarian reserve maintenance; FOXL2-dependent eyelid developmental dysregulation; Polyalanine expansion and FOXL2 protein mislocalization
|
| Malignant Sertoli-Leydig Cell Tumor of Ovary |
untyped
A minority of Sertoli-Leydig cell tumors carry the FOXL2 c.402C>G (p.C134W) mutation instead of a DICER1 mutation. The two lesions are mutually exclusive, and the FOXL2-mutant SLCTs form a clinically distinct, markedly older group.
somatic
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.