Features include always present findings: Stage 5 chronic kidney disease, Reduced visual acuity, Visual impairment, and Rod-cone dystrophy. 5 total HPO annotations.

CEP290 encodes centrosomal protein 290 (2,479 aa). Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. Highest expression in Ovary (16.9 TPM) and Nerve Tibial (14.0 TPM).

Senior-Loken syndrome 6 is associated with mutations in the CEP290 gene on chromosome 12.

The CEP290 protein participates in CP110 and CEP97 dissociate from the centriole, The distal appendage proteins recruit TTBK2, and Anchoring of the basal body to the plasma membrane pathways.

CEP290 is classified as a druggable target with score 0.0.

Genetic testing for CEP290 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features.

No clinical trials have been registered for Senior-Loken syndrome 6.

4 publications have been identified in PubMed for Senior-Loken syndrome 6. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

• de Bruijn SE (2025). [PMID: 40263280](https://pubmed.ncbi.nlm.nih.gov/40263280/). *NPJ Genom Med*. [Basic Science / Preclinical]

• Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Vrabič N (2024). [PMID: 39213781](https://pubmed.ncbi.nlm.nih.gov/39213781/). *J Fr Ophtalmol*. [Review / Meta-Analysis]