LIMK1
Chr 7LIM domain kinase 1
Also known as: LIMK, LIMK-1
LIMK1 encodes a serine/threonine kinase that regulates actin filament dynamics by phosphorylating and inactivating cofilin, thereby stabilizing the actin cytoskeleton and controlling cell motility, axonal outgrowth, and brain development. LIMK1 is highly constrained against loss-of-function variants and hemizygous deletions contribute to the visuospatial cognitive deficits seen in Williams syndrome. The gene plays a critical role in cytoskeletal regulation and neurodevelopmental processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
329 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 | 1 | 163 | 0 | 164 |
Likely Pathogenic | 0 | 1 | 5 | 0 | 6 |
VUS | 0 | 78 | 4 | 0 | 82 |
Likely Benign | 0 | 3 | 8 | 31 | 42 |
Benign | 0 | 3 | 4 | 3 | 10 |
Conflicting | — | 1 | |||
| Total | 0 | 86 | 184 | 34 | 305 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LIMK1 · 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