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…

Primary Disease Associations & Inheritance

Lowry-Wood syndromeMIM #226960

Microcephalic osteodysplastic primordial dwarfism, type IMIM #210710

Roifman syndromeMIM #616651

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · RNU4ATAC spectrum disorder · AR · ClinGen 2024

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

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GeneReview available — RNU4ATAC

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in RNU4ATAC?

gnomAD v4 · ~0k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

none observed

0 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in RNU4ATAC; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.