PCNT
Chr 21ARpericentrin
Pericentrin is an integral component of the pericentriolar material that organizes microtubule arrays during mitosis and meiosis and prevents premature centrosome splitting by inhibiting NEK2 kinase activity. Mutations cause microcephalic osteodysplastic primordial dwarfism type II, an autosomal recessive disorder characterized by severe prenatal and postnatal growth restriction, microcephaly, and skeletal dysplasia. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
PCNT · 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