DDX11
Chr 12ARDEAD/H-box helicase 11
Also known as: CHL1, CHLR1, KRG2, WABS
DDX11 encodes a DNA helicase with ATPase activity that maintains genomic stability during DNA replication, repair, and chromosome segregation, and also participates in ribosomal RNA synthesis. Biallelic mutations cause Warsaw breakage syndrome, an autosomal recessive disorder characterized by growth retardation, microcephaly, hearing loss, and chromosomal instability with a high frequency of sister chromatid exchanges. The gene shows very low constraint against loss-of-function variants (pLI near zero), which is consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DDX11 · 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