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| Blepharophimosis ptosis and epicanthus inversus v1.2 | FOXL2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #110100) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis ptosis and epicanthus inversus v1.2 | FOXL2 | Achchuthan Shanmugasundram Phenotypes for gene: FOXL2 were changed from to Blepharophimosis, ptosis, and epicanthus inversus, OMIM:110100; blepharophimosis, ptosis, and epicanthus inversus syndrome, MONDO:0007201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis ptosis and epicanthus inversus v0.1 | FOXL2 | Achchuthan Shanmugasundram reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis ptosis and epicanthus inversus v0.1 | FOXL2 |
Achchuthan Shanmugasundram gene: FOXL2 was added gene: FOXL2 was added to Blepharophimosis ptosis and epicanthus inversus. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FOXL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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