RNU4-2
HGNC ↗3 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.
Curated publications
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)
Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.
Unsolved Mendelian disorders, neurodevelopmental disorders
Exploring 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)
Frequently asked questions
How is a RNU4-2-related condition inherited?+
Usually de novo (ReNU syndrome); biallelic recessive forms described
What is the clinical spectrum associated with RNU4-2?+
Intellectual disability, hypotonia, epilepsy, microcephaly, white-matter abnormalities
What is the management associated with RNU4-2?+
Multidisciplinary symptomatic management; genetic counselling.
How many Geno'X publications cover the RNU4-2 gene?+
3 publication(s) on RNU4-2 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
