Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.6 | TBK1 |
Nicky Cronbach gene: TBK1 was added gene: TBK1 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBK1 were set to PMID: 21447600; 31563868; 33892047; 2774031 Phenotypes for gene: TBK1 were set to Juvenile open angle glaucoma; Juvenile normal tension glaucoma; HP:0001087 developmental glaucoma; HP:0012108 open angle glaucoma; HP:0000501 glaucoma Penetrance for gene: TBK1 were set to unknown Review for gene: TBK1 was set to GREEN Added comment: Autosomal dominant juvenile and adult-onset normal tension and open angle glaucoma. More than 3 families reported. PMID 2774031 reports a family with juvenile normal tension glaucoma from 13 years of age, who have subsequently been reported to have a TBK1 dominant variant (PMID 34536459). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||