CEP20
Chr 16centrosomal protein 20
Also known as: C16orf63, FOPNL, FOR20, PHSECRG2
CEP20 encodes a protein that enables identical protein binding and is involved in cilium assembly and centrosome function, specifically recruiting PLK1 to centrosomes for S phase progression. Mutations cause Joubert syndrome, a ciliopathy characterized by cerebellar vermis hypoplasia, developmental delays, and other neurological features, following an autosomal recessive inheritance pattern. The gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF 1.624), consistent with recessive disease mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
99 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 59 |
Likely Pathogenic | — | — | — | — | 29 |
VUS | — | — | — | — | 8 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 96 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CEP20 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools