Fetal anomalies
Gene: RNU2-2P

RNU2-2P (RNA, U2 small nuclear 2, pseudogene)
EnsemblGeneIds (GRCh38): ENSG00000222328
EnsemblGeneIds (GRCh37): ENSG00000222328
RNU2-2P is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The new-gene-name tag has been added as the latest HGNC symbol is RNU2-2.
Created: 10 Mar 2026, 3:55 p.m. | Last Modified: 10 Mar 2026, 3:55 p.m.

Panel Version: 6.154

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.

Panel Version: 6.148

Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.154

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

I don't know

Amber gene on R59, R29. Heterozygous and biallelic recurrent germline variants in RNU2-2 (previously known as pseudogene RNU2-2P) lead to a major spliceosomal snRNA disorder characterised by ID, autistic behavior, microcephaly, hypotonia, epilepsy (severe and complex) and hyperventilation. AD RNU2-2 syndrome has a prevalence of ~20% that of RNU4-2 syndrome. AR RNU2-2 syndrome accounts for 7-10% of families with a diagnosed recessive NDD, and is 36-62% as prevalent as the dominant RNU4-2-related disorder. Brain MRI scans were often normal early in life but could later show cerebral and cerebellar atrophy or white matter changes. No prenatal phenotype reported to date.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.

Panel Version: 6.147

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Developmental and epileptic encephalopathy 119, OMIM:621304

Tags

new-gene-name locus-type-rna-small-nuclear

Clinvar variants

Variants in RNU2-2P

Penetrance

None

Publications

Panels with this gene