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Intellectual disability

Gene: RNU5B-1

Amber List (moderate evidence)
RNU5B-1 (RNA, U5B small nuclear 1)
EnsemblGeneIds (GRCh38): ENSG00000200156
EnsemblGeneIds (GRCh37): ENSG00000200156
RNU5B-1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621302) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 10:33 p.m. | Last Modified: 18 Dec 2025, 10:33 p.m.
Panel Version: 9.203
Created: 18 Dec 2025, 10:33 p.m.
Last Modified: 18 Dec 2025, 10:33 p.m.
Panel version: 9.203

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - multiple unrelated individuals reported with de novo (several recurrent) variants in the RNU5B-1 gene that lead to splicing disruption. All individuals present with a neurodevelopmental disorder, with variable degrees of intellectual disability reported in almost all cases. This disorder to relevant to the R27 Paediatric disorders superpanel, which will be added through inclusion on the Intellectual disability panel.
Created: 28 Jul 2025, 2:45 p.m. | Last Modified: 28 Jul 2025, 2:45 p.m.
Panel Version: 9.47
At least 19 individuals with de novo and/or recurrent variants in RNU5B-1 and a neurodevelopmental disorder characterised by ID/DD, brain MRI abnormalities, hypotonia, microcephaly or macrocephaly, failure to thrive, and in some cases seizures.

PMID: 40379786 (2025) - 15 unrelated probands with heterozygous variants in RNU5B-1. Clinical data was available for 9 individuals who presented with a neurodevelopmental disorder including severe ID/DD (although one patient had normal cognition but attention difficulties) and brain MRI abnormalities. Other features were variable and include hypotonia, epilepsy, ocular abnormalities, acquired microcephaly or macrocephaly and other variable congenital abnormalities. Variants typically arose de novo on the maternal allele and cluster in regions critical for splicing. Functional studies demonstrate variant-specific splicing abnormalities in patient-derived cells which may underline the clinical variability observed in patients.

PMID: 40442284 (2025) - 9 unrelated individuals with de novo variants in RNU5B-1 and a neurodevelopmental disorder characterised by GDD/ID, macrocephaly, eye abnormalities, seizures, hypotonia and failure to thrive, among other variable features - based on 6 cases where phenotype information was available. Variants were again found in regions critical for splicing.

Both studies investigated participants of the 100KGP and/or NHS GMS (6 in PMID: 40379786 and 5 in PMID: 40442284) so likely refer to the same individuals.
Sources: Literature
Created: 28 Jul 2025, 2:38 p.m.

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

Phenotypes
Neurodevelopmental disorder, MONDO:0700092

Publications

Created: 28 Jul 2025, 2:38 p.m.

Panel version: 9.46

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
  • RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179
Tags
locus-type-rna-small-nuclear dd_review Q3_25_promote_green gene-checked
Clinvar variants
Variants in RNU5B-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RNU5B-1 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302; RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179

18 Dec 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: RNU5B-1.

28 Jul 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag locus-type-rna-small-nuclear tag was added to gene: RNU5B-1. Tag dd_review tag was added to gene: RNU5B-1.

28 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rnu5b-1 has been classified as Amber List (Moderate 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: RNU5B-1 was added gene: RNU5B-1 was added to Intellectual disability. Sources: Literature Q3_25_promote_green tags were added to gene: RNU5B-1. Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU5B-1 were set to 40379786; 40442284 Phenotypes for gene: RNU5B-1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: RNU5B-1 was set to GREEN