DDG2P
Gene: UBR5

UBR5 (ubiquitin protein ligase E3 component n-recognin 5)
EnsemblGeneIds (GRCh38): ENSG00000104517
EnsemblGeneIds (GRCh37): ENSG00000104517
OMIM: 608413, Gene2Phenotype
UBR5 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for UBR5-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:39721588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03734.
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:0700092; UBR5-related neurodevelopmental disorder

Publications

39721588

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

UBR5-related neurodevelopmental disorder
MONDO:0700092

OMIM

608413

Clinvar variants

Variants in UBR5

Penetrance

None

Publications

39721588

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UBR5 was added gene: UBR5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBR5 were set to 39721588 Phenotypes for gene: UBR5 were set to UBR5-related neurodevelopmental disorder; MONDO:0700092

DDG2P Gene: UBR5