RNU4ATAC
Chr 2ARRNA, U4atac small nuclear
Also known as: LWS, MOPD1, RFMN, RNU4ATAC1, TALS, U4ATAC
The small nuclear RNA encoded by this gene is an essential component of the U12-dependent minor spliceosome complex that splices approximately 700 specific introns in the human genome. Biallelic mutations cause severe early-onset developmental disorders including microcephalic osteodysplastic primordial dwarfism type 1, Lowry-Wood syndrome, and Roifman syndrome, all inherited in an autosomal recessive pattern. These conditions are characterized by profound growth restriction, microcephaly, skeletal abnormalities, and immunodeficiency.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
284 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 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 25 | 0 | 25 |
VUS | 0 | 0 | 186 | 0 | 186 |
Likely Benign | 0 | 0 | 17 | 0 | 17 |
Benign | 0 | 0 | 8 | 0 | 8 |
Conflicting | — | 17 | |||
| Total | 0 | 0 | 267 | 0 | 284 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RNU4ATAC · 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
Primordial Dwarfism Registry
RECRUITINGStudy of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
RECRUITINGExternal Resources
Links to major genomics databases and tools