CSPP1
Chr 8ARcentrosome and spindle pole associated protein 1
Also known as: CSPP, CSPP-L, JBTS21
The encoded protein is a centrosome and spindle pole associated protein required for cilia formation, cell-cycle progression, and spindle organization. Mutations cause Joubert syndrome 21, a ciliopathy characterized by cerebellar vermis hypoplasia, developmental delay, and distinctive brainstem malformation. This condition follows autosomal recessive inheritance and has a GeneReviews entry available for detailed clinical guidance.
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
CSPP1 · 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