RNU5B-1
Chr 15q22RNA, U5B small nuclear 1
- Aliases:
- U5B1
- MANE:
- ENST00000363286.2
Annotations refreshed 10 hours ago.
Predicted protein structure
No predicted 3D structure for RNU5B-1. Non-coding genes and pseudogenes typically have no protein product.
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
0.63Neurodevelopmental delay
0.02neurodevelopmental disorder
0.01neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
0.00Failure to thrive
0.00Global developmental delay
0.00hereditary disease
0.00
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.