TBL3
Chr 16transducin beta like 3
Also known as: SAZD, UTP13
TBL3 encodes a WD40 repeat-containing protein that is part of the small subunit processome involved in ribosome biogenesis, where it assists in the processing and assembly of precursor ribosomal RNA in the nucleolus. Mutations cause an autosomal recessive neurodevelopmental disorder characterized by intellectual disability, developmental delay, and microcephaly. This gene is not highly constrained against loss-of-function variation, which is consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
392 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 | 41 | 0 | 41 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 267 | 16 | 0 | 284 |
Likely Benign | 1 | 18 | 0 | 4 | 23 |
Benign | 0 | 0 | 1 | 2 | 3 |
| Total | 2 | 285 | 59 | 6 | 352 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TBL3 · 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