| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | FOXL2 | Nicola Ragge reviewed gene: FOXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, 110100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | FOXL2 | Ivone Leong edited their review of gene: FOXL2: Changed phenotypes: Blepharophimosis, epicanthus inversus, and ptosis, 110100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | FOXL2 | Ivone Leong reviewed gene: FOXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperferritinemia-cataract syndrome, 600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | FOXL2 |
Ivone Leong gene: FOXL2 was added gene: FOXL2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXL2 were set to Blepharophimosis, epicanthus inversus, and ptosis, 110100 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||