FOXL2 Chromosome 3
Forkhead box L2
Upload your DNA to see your personal genotypes for variants in FOXL2.
What This Gene Does
This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
3q22.3
Ensembl
ENSG00000183770
Associated Conditions (15)
Premature ovarian failure 3
Blepharophimosis
ptosis
and epicanthus inversus syndrome
See cases
Genetic non-acquired premature ovarian failure
BLEPHAROPHIMOSIS
PTOSIS
AND EPICANTHUS INVERSUS
TYPE I
TYPE II
Inborn genetic diseases
FOXL2-related disorder
and epicanthus inversus
type II with Duane retraction syndrome
Key Variants
RS121908359
Conflicting classifications of pathogenicity
Premature ovarian failure 3, Blepharophimosis, ptosis
Health Risk
RS28937885
Conflicting classifications of pathogenicity
Premature ovarian failure 3, Blepharophimosis, ptosis
Health Risk
RS779509486
Conflicting classifications of pathogenicity
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1057516142
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1057516144
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1057516145
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1057516149
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1057516151
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1057516153
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1057516156
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1057516157
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
RS1226344391
Likely pathogenic
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Health Risk
All Variants (135)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057516174 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516175 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516176 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516178 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516179 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516180 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516181 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516182 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516183 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516184 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1057516185 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1060499717 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS121908358 | Health Risk | Pathogenic | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS |
| RS1462109887 | Health Risk | Pathogenic | — |
| RS1553752779 | Health Risk | Pathogenic | Premature ovarian failure 3, Premature ovarian failure 3 |
| RS1553752849 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1553752890 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1553752894 | Health Risk | Pathogenic | Premature ovarian failure 3, Premature ovarian failure 3 |
| RS1553752945 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559921677 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559921797 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559921800 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559921849 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559921874 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559921944 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559921973 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922013 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922026 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922033 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922136 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922257 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922261 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922308 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922381 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922462 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922470 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922472 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922473 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922476 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922628 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922657 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922782 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1559922829 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS1576469579 | Health Risk | Pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome |
| RS2107743381 | Health Risk | Pathogenic | Genetic non-acquired premature ovarian failure, Premature ovarian failure 3, Genetic non-acquired premature ovarian failure |
| RS2107744454 | Health Risk | Pathogenic | — |
| RS2107744774 | Health Risk | Pathogenic | — |
| RS2107744913 | Health Risk | Pathogenic | — |
| RS2473811864 | Health Risk | Pathogenic | — |
| RS2473811980 | Health Risk | Pathogenic | — |