CPLANE1
Chr 5ARciliogenesis and planar polarity effector complex subunit 1
Also known as: C5orf42, Hug, JBTS17, OFD6
This protein is involved in ciliogenesis and establishment of cell polarity required for directional cell migration, functioning as part of the CPLANE complex to recruit peripheral IFT-A proteins to basal bodies. Mutations cause Joubert syndrome 17 and orofaciodigital syndrome VI, both ciliopathies affecting the central nervous system and multiple organ systems. The inheritance pattern is autosomal recessive.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 39 | 0 | 5 | 0 | 44 |
Likely Pathogenic | 42 | 1 | 1 | 0 | 44 |
VUS | 1 | 155 | 34 | 4 | 194 |
Likely Benign | 0 | 6 | 62 | 102 | 170 |
Benign | 0 | 0 | 5 | 0 | 5 |
Conflicting | — | 1 | |||
| Total | 82 | 162 | 107 | 106 | 458 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CPLANE1 · 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