Intellectual disability
Gene: RNU5A-1

RNU5A-1 (RNA, U5A small nuclear 1)
EnsemblGeneIds (GRCh38): ENSG00000199568
EnsemblGeneIds (GRCh37): ENSG00000199568
OMIM: 180691, Gene2Phenotype
RNU5A-1 is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Red awaiting further evidence - limited number of cases currently reported with variable neurodevelopmental phenotype. Variants have been classified as VUS and additional evidence is required to ascertain pathogenicity.
Created: 28 Jul 2025, 3:15 p.m. | Last Modified: 28 Jul 2025, 3:15 p.m.

Panel Version: 9.51

PMID: 40379786 (2025) - three unrelated individuals with de novo variants in the RNU5A-1 gene (classified as VUS) and a neurodevelopmental disorder. Six individuals with rare de novo variants were identified in total but clinical details were only available for 3/6. Of these three individuals, two harboured the same variant (n.40_41insA) on the maternal allele, while the third individual harboured a different variant (n.39del) but also on the 5′ loop I domain of RNU5A-1. Clinical data showed neurodevelopmental abnormalities (mild ID (2), severe ID (1), epilepsy (2), brain MRI abnormalities (1)) with variable congenital malformations.
Sources: Literature
Created: 28 Jul 2025, 3:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder, MONDO:0700092

Publications

40379786

Created: 28 Jul 2025, 3:10 p.m.

Panel version: 9.50

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Literature

Phenotypes

Neurodevelopmental disorder, MONDO:0700092

Tags

locus-type-rna-small-nuclear

OMIM

180691

Clinvar variants

Variants in RNU5A-1

Penetrance

None

Publications

40379786

Panels with this gene

History Filter Activity

28 Jul 2025, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rnu5a-1 has been classified as Red List (Low Evidence).

28 Jul 2025, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: RNU5A-1 was added gene: RNU5A-1 was added to Intellectual disability. Sources: Literature locus-type-rna-small-nuclear tags were added to gene: RNU5A-1. Mode of inheritance for gene: RNU5A-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU5A-1 were set to 40379786 Phenotypes for gene: RNU5A-1 were set to Neurodevelopmental disorder, MONDO:0700092

Intellectual disability Gene: RNU5A-1