CEP192
Chr 18centrosomal protein 192
Also known as: PPP1R62
CEP192 encodes a centrosome protein required for mitotic centrosome maturation, bipolar spindle assembly, and serves as an activating scaffold for key mitotic kinases AURKA and PLK1. Mutations cause autosomal recessive primary microcephaly with onset apparent at birth, reflecting the gene's critical role in proper cell division during brain development. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
406 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 | 0 | 0 | 83 | 0 | 83 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 230 | 4 | 0 | 234 |
Likely Benign | 0 | 20 | 1 | 3 | 24 |
Benign | 0 | 4 | 0 | 2 | 6 |
| Total | 0 | 254 | 90 | 5 | 349 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CEP192 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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