LAS1L
Chr XXLRLAS1 like ribosome biogenesis factor
Also known as: Las1, Las1-like, MRXSWTS, WTS, dJ475B7.2
This protein is required for synthesis of the 60S ribosomal subunit and maturation of 28S rRNA through processing of internal transcribed spacer 2. Mutations cause Wilson-Turner syndrome, an X-linked recessive disorder characterized by intellectual disability and distinctive facial features. The gene is highly constrained against loss-of-function variants in the population, indicating that such variants are likely to be pathogenic.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
400 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 | 0 | 47 | 0 | 47 |
Likely Pathogenic | 2 | 2 | 1 | 0 | 5 |
VUS | 1 | 129 | 18 | 0 | 148 |
Likely Benign | 0 | 7 | 22 | 52 | 81 |
Benign | 0 | 4 | 13 | 3 | 20 |
Conflicting | — | 7 | |||
| Total | 3 | 142 | 101 | 55 | 308 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LAS1L · 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