Structural eye disease
Gene: TBK1EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 8 panels
1 review
Nicky Cronbach (UCL/Moorfields Eye Hospital)
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: LiteratureCreated: 17 Jun 2026, 1:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Juvenile open angle glaucoma; Juvenile normal tension glaucoma; HP:0001087 developmental glaucoma; HP:0012108 open angle glaucoma; HP:0000501 glaucoma
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Juvenile open angle glaucoma
- Juvenile normal tension glaucoma
- HP:0001087 developmental glaucoma
- HP:0012108 open angle glaucoma
- HP:0000501 glaucoma
- OMIM
- 604834
- Clinvar variants
- Variants in TBK1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset neurodegenerative disorder
- COVID-19 research
- Structural eye disease
- Autoinflammatory disorders
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Nicky Cronbach (UCL/Moorfields Eye Hospital)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