LIG4
Chr 13SomaticARDNA ligase 4
Also known as: LIG4S
DNA ligase IV catalyzes the final ligation step in non-homologous end joining DNA repair and is essential for V(D)J recombination in developing lymphocytes. Biallelic mutations cause LIG4 syndrome, an autosomal recessive disorder characterized by severe combined immunodeficiency, developmental delays, microcephaly, growth retardation, and increased cancer susceptibility. The gene is highly intolerant to loss-of-function variation (pLI near 0), reflecting its critical role in DNA repair and immune system development.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
LIG4 · 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
External Resources
Links to major genomics databases and tools