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| Structural eye disease v5.7 | TBK1 | Luke Stuart reviewed gene: TBK1: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 21447600, 33892047, 28984711; Phenotypes: low tension glaucoma (MONDO:0006837), juvenile open angle glaucoma (MONDO:0020367); Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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