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DDG2P

Gene: RNU2-2P

Green List (high evidence)
RNU2-2P (RNA, U2 small nuclear 2, pseudogene)
EnsemblGeneIds (GRCh38): ENSG00000222328
EnsemblGeneIds (GRCh37): ENSG00000222328
RNU2-2P is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The 'new-gene-name' tag has been added as the official HGNC gene symbol for RNU2-2P is RNU2-2.
Created: 13 Feb 2026, 9:31 p.m. | Last Modified: 13 Feb 2026, 9:31 p.m.
Panel Version: 6.17
The DDG2P confidence category, allelic requirement and molecular mechanism for RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation are strong, monoallelic_autosomal and undetermined (PMIDs: 40210679, 40442284). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03745.
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
MONDO:0100038; RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation

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
  • RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation
  • MONDO:0100038
Tags
new-gene-name
Clinvar variants
Variants in RNU2-2P
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag new-gene-name tag was added to gene: RNU2-2P.

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RNU2-2P was added gene: RNU2-2P was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU2-2P were set to 40442284; 40210679 Phenotypes for gene: RNU2-2P were set to RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation; MONDO:0100038