STIL
Chr 1ARSTIL centriolar assembly protein
Also known as: MCPH7, SIL
The protein regulates the mitotic spindle checkpoint by monitoring chromosome segregation during cell division and modulating Cdc2 kinase activity to ensure proper chromosome distribution to daughter cells. Biallelic mutations cause primary microcephaly 7, an autosomal recessive disorder characterized by reduced brain size. The pathogenic mechanism involves disrupted cell division control leading to impaired neuronal proliferation during brain development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
300 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 | 4 | 1 | 2 | 0 | 7 |
Likely Pathogenic | 10 | 0 | 4 | 0 | 14 |
VUS | 2 | 169 | 6 | 1 | 178 |
Likely Benign | 0 | 7 | 29 | 32 | 68 |
Benign | 0 | 0 | 23 | 0 | 23 |
Conflicting | — | 2 | |||
| Total | 16 | 177 | 64 | 33 | 292 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
STIL · 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