1. Panels
  2. DDG2P
  3. U2AF2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: U2AF2

Green List (high evidence)
U2AF2 (U2 small nuclear RNA auxiliary factor 2)
EnsemblGeneIds (GRCh38): ENSG00000063244
EnsemblGeneIds (GRCh37): ENSG00000063244
OMIM: 191318, Gene2Phenotype
U2AF2 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 U2AF2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 33644862, 34112922, 36747105, 37962958). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02884.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease U2AF2-related neurodevelopmental disorder is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34112922;37962958;36747105;33644862;33057194).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease U2AF2-related developmental disorder (monoallelic) is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:33057194).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
U2AF2-related developmental disorder (monoallelic); OMIM:620535.0; MONDO:0957810; U2AF2-related neurodevelopmental disorder

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • U2AF2-related developmental disorder (monoallelic)
OMIM
191318
Clinvar variants
Variants in U2AF2
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: U2AF2 was changed from Other to None

4 Oct 2023, 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: U2AF2 was added gene: U2AF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 33057194 Phenotypes for gene: U2AF2 were set to U2AF2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: U2AF2 was set to Other