← Gene index
RNU4-2
HGNC ↗2 article(s) in the watch · Constitutional genetics
RNU4-2 encodes the U4 small nuclear RNA of the major spliceosome. De novo variants (ReNU syndrome) are a common cause of neurodevelopmental disorder; biallelic recessive forms, often more severe or earlier-onset, have also been described.
InheritanceUsually de novo (ReNU syndrome); biallelic recessive forms described
Clinical spectrumIntellectual disability, hypotonia, epilepsy, microcephaly, white-matter abnormalities
ManagementMultidisciplinary symptomatic management; genetic counselling.
Curated publications
10/10
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Novel recessive NDD syndrome with white matter abnormalities (distinct from dominant ReNU — MIM#620851)
Gén.22 April 2026
7/10Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population
RNU4-2-linked neurodevelopmental disorder, severe intellectual disability and epilepsy (non-coding spliceosomal RNA)
Gén.10 June 2026