CEP290-related ciliopathy: genes and variants
CEP290-related ciliopathy is linked to 1 analyzed protein (CEP290). 7 DNA variants are known to cause it; 12 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to CEP290-related ciliopathy
CEP290: Centrosomal protein of 290 kDa
It organizes the transition zone of primary and sensory cilia and is essential for ciliary protein trafficking, especially in photoreceptors. Biallelic pathogenic variants cause a broad ciliopathy spectrum including Leber congenital amaurosis, Joubert syndrome, and nephronophthisis-related disease.
7 disease-causing and 12 uncertain variants in CEP290 are linked to CEP290-related ciliopathy.
Where CEP290-related ciliopathy variants cluster
- CEP290 Self-association (with itself or C-terminus) (positions 1–695): 4 of 7 disease-causing changes, 2.0× more than its size predicts.
Known disease-causing variants in CEP290-related ciliopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CEP290 W7C | 7 | Self-association (with itself or C-terminus) | Disease-causing (★★★) |
| CEP290 M1K | 1 | Self-association (with itself or C-terminus) | Disease-causing (★★★) |
| CEP290 H50Y | 50 | Self-association (with itself or C-terminus) | Disease-causing (★★★) |
| CEP290 R1926P | 1926 | Coiled coil | Disease-causing (★★★) |
| CEP290 R1752W | 1752 | Coiled coil | Disease-causing (★★★) |
| CEP290 K75E | 75 | Coiled coil | Disease-causing (★★★) |
| CEP290 L805P | 805 | Coiled coil | Disease-causing (★★★) |
Same protein, different disease
- Joubert syndrome is also caused by CEP290 variants; they fall partly in the same places as the CEP290-related ciliopathy variants (5 disease-causing).
Diseases related to CEP290-related ciliopathy
- Retinitis pigmentosa, also linked to CEP290
- Leber congenital amaurosis, also linked to CEP290
- Bardet-Biedl syndrome, also linked to CEP290
- Senior-Loken syndrome, also linked to CEP290
- Nephronophthisis, also linked to CEP290
- Joubert syndrome, also linked to CEP290
- Meckel syndrome, also linked to CEP290
- Meckel-Gruber syndrome, also linked to CEP290
Frequently asked questions
Which genes are linked to CEP290-related ciliopathy?
In CATVariant, CEP290-related ciliopathy is linked to 1 analyzed protein: CEP290 (Centrosomal protein of 290 kDa).
How many genetic variants are linked to CEP290-related ciliopathy?
25 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in CEP290-related ciliopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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