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Intellectual disability

Gene: UBR5

Amber List (moderate evidence)
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)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Created: 22 Jul 2025, 10:27 a.m. | Last Modified: 22 Jul 2025, 10:27 a.m.
Panel Version: 9.43
PMID:39721588 reported 29 unrelated individuals with a complex neurodevelopmental syndrome, which includes developmental delay (26/28), autism (16/26), intellectual disability (14/25), epilepsy (11/27), movement disorders (6/26) and/ or genital anomalies (4/25) as presenting phenotypes. They were all identified with variants in UBR5 gene, of which 28 had monoallelic inheritance (24 with de novo, 1 with maternal, 1 with maternal mosaic and 2 with unknown inheritance), while one had recessive inheritance.

Of the 28 patients with monoallelic variants, 16 had global developmental delay, 13 had ID and 10 patients had epilepsy/ seizures. The single patient with biallelic variant had severe/ profound ID, developmental delay and epileptic encephalopathy.

Functional evidence is also available from C. elegans and in vitro ubiquitination assays.

This gene is associated with phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Created: 22 Jul 2025, 10:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder, MONDO:0100038

Publications

Created: 22 Jul 2025, 10:26 a.m.

Panel version: 9.42

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
dd_review Q3_25_promote_green
OMIM
608413
Clinvar variants
Variants in UBR5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: ubr5 has been classified as Amber List (Moderate Evidence).

22 Jul 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: UBR5.

22 Jul 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UBR5 was added gene: UBR5 was added to Intellectual disability. Sources: Literature dd_review tags were added to gene: UBR5. Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBR5 were set to 39721588 Phenotypes for gene: UBR5 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: UBR5 was set to GREEN