CEP290
Universal Cellular Machinery · Cilium Assembly & Centrosomal Organization
Why does CEP290 matter for light-sensing cells in the eye?
CEP290 makes a protein associated with centrosomes and cilia, including specialized structures in photoreceptors. Disruption of these structures can affect retinal function as part of a broader ciliary disorder.
- Common Gene Name
- centrosomal protein 290
- NCBI Gene ID
- 80184
- Chromosome
- 12
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (6 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| CEP290-related ciliopathy | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2022-02-03 |
| Bardet-Biedl syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2022-10 | |
| Leber congenital amaurosis | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2022-10 | |
| Joubert syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2022-10 | |
| Meckel syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2022-10 | |
| Senior-Løken syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2022-10 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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