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DDG2P

Gene: RNU5B-1

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies are moderate, monoallelic_autosomal and undetermined (PMIDs: 40379786, 40442284). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03743.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

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

Phenotypes
RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies
Tags
locus-type-rna-small-nuclear gene-checked
Clinvar variants
Variants in RNU5B-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RNU5B-1 was added gene: RNU5B-1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 40442284; 40379786 Phenotypes for gene: RNU5B-1 were set to RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies