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| Blepharophimosis v1.3 | FOXL2_BPES_GCN | Bryony Thompson Marked STR: FOXL2_BPES_GCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v1.3 | FOXL2_BPES_GCN | Bryony Thompson Str: foxl2_bpes_gcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v1.3 | FOXL2_BPES_GCN | Bryony Thompson Classified STR: FOXL2_BPES_GCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v1.3 | FOXL2_BPES_GCN | Bryony Thompson Str: foxl2_bpes_gcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Blepharophimosis v1.2 | FOXL2_BPES_GCN |
Bryony Thompson STR: FOXL2_BPES_GCN was added STR: FOXL2_BPES_GCN was added to Blepharophimosis. Sources: Literature Mode of inheritance for STR: FOXL2_BPES_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FOXL2_BPES_GCN were set to 11468277; 33811808 Phenotypes for STR: FOXL2_BPES_GCN were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996 Review for STR: FOXL2_BPES_GCN was set to GREEN STR: FOXL2_BPES_GCN was marked as clinically relevant STR: FOXL2_BPES_GCN was marked as current diagnostic Added comment: NM_023067.2:c.661_702[X] Mechanism of disease is polyAlanine tract leading to a loss of function of the protein Normal repeat number: 14 Pathogenic repeat number: 19-24 Sources: Literature |
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