RNU4ATAC

Chr 2AR

RNA, U4atac small nuclear

Also known as: LWS, MOPD1, RFMN, RNU4ATAC1, TALS, U4ATAC

NCBI Gene: 100151683 ENSG00000264229 OMIM: 601428

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]

GeneReviews OMIM ResearchGenerating clinical summary…

AR3 OMIM phenotypes

Clinical Summary— RNU4ATAC

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Gene-Disease Validity (ClinGen)

RNU4ATAC spectrum disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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ClinVar Variants

30 unique Pathogenic / Likely Pathogenic· 182 VUS of 255 total submissions

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Clinical Trials

2 active or recruiting trials — potential therapeutic options may be available

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GeneReview available — RNU4ATAC

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

255 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7

Likely Pathogenic23

VUS182

Likely Benign16

Benign8

Conflicting19

Pathogenic

Likely Pathogenic

182

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	7	0	7
Likely Pathogenic	0	0	23	0	23
VUS	0	0	182	0	182
Likely Benign	0	0	16	0	16
Benign	0	0	8	0	8
Conflicting	—				19
Total	0	0	236	0	255

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

26 pathogenic / likely-pathogenic (of 32) ClinVar copy-number / structural variants overlap RNU4ATAC — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →