CEP290
Chr 12ARcentrosomal protein 290
Also known as: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3
This protein is essential for cilia formation and function, regulating early ciliogenesis steps, centrosomal recruitment of ciliary proteins, and ciliary membrane composition. Autosomal recessive mutations cause a spectrum of ciliopathies including Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome, and Bardet-Biedl syndrome. The pathogenic mechanism involves disrupted ciliary assembly and transport processes, particularly affecting retinal photoreceptors and other ciliated tissues.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CEP290 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
ACTIVE NOT RECRUITINGStudy to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
RECRUITINGStudy to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
ACTIVE NOT RECRUITINGExercise to Fight Obesity
RECRUITINGExternal Resources
Links to major genomics databases and tools