← Gene index
RNU4ATAC
HGNC ↗2 article(s) in the watch · Constitutional genetics
RNU4ATAC encodes a minor-spliceosome small nuclear RNA. Biallelic variants cause a spectrum of developmental disorders.
InheritanceAutosomal recessive
Clinical spectrumMicrocephalic osteodysplastic primordial dwarfism type I, Roifman and Lowry-Wood syndromes
ManagementMultidisciplinary care; genetic counselling.
Curated publications
9/10
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed
RNU4ATAC-opathies — expanded clinical spectrum
Gén.23 June 2026
8/10RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
RNU4ATAC-opathy — large international cohort
Gén.23 June 2026
Frequently asked questions
How is a RNU4ATAC-related condition inherited?+
Autosomal recessive
What is the clinical spectrum associated with RNU4ATAC?+
Microcephalic osteodysplastic primordial dwarfism type I, Roifman and Lowry-Wood syndromes
What is the management associated with RNU4ATAC?+
Multidisciplinary care; genetic counselling.
How many Geno'X publications cover the RNU4ATAC gene?+
2 publication(s) on RNU4ATAC have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
