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DDG2P

Gene: RNU4-2

Green List (high evidence)
RNU4-2 (RNA, U4 small nuclear 2)
EnsemblGeneIds (GRCh38): ENSG00000202538
EnsemblGeneIds (GRCh37): ENSG00000202538
RNU4-2 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RNU4-2 related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome) are strong, monoallelic_autosomal and loss of function (PMIDs: 38821540, 38991538, 39369315, 39434505, 40011755, 40379786). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03537.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620851).
Created: 12 Mar 2025, 1:50 p.m. | Last Modified: 12 Mar 2025, 1:50 p.m.
Panel Version: 5.47
The DDG2P confidence category for the disease RNU4-2 related neurodevelopmental disorder with microcephaly and seizures is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 38991538;38821540).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
RNU4-2 related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome); OMIM:620851.0; MONDO:0971172; RNU4-2 related neurodevelopmental disorder with microcephaly and seizures

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
Tags
locus-type-rna-small-nuclear de novo gene-checked
Clinvar variants
Variants in RNU4-2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: RNU4-2 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: RNU4-2.

12 Mar 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RNU4-2 were changed from RNU4-2 related neurodevelopmental disorder with microcephaly and seizures to RNU4-2 related neurodevelopmental disorder with microcephaly and seizures

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: RNU4-2.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RNU4-2 was added gene: RNU4-2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU4-2 were set to 38821540; 38991538 Phenotypes for gene: RNU4-2 were set to RNU4-2 related neurodevelopmental disorder with microcephaly and seizures Mode of pathogenicity for gene: RNU4-2 was set to Other