Autism
Gene: UBR5
UBR5 (ubiquitin protein ligase E3 component n-recognin 5)
EnsemblGeneIds (GRCh38): ENSG00000104517
EnsemblGeneIds (GRCh37): ENSG00000104517
OMIM: 608413, Gene2Phenotype
UBR5 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000104517
EnsemblGeneIds (GRCh37): ENSG00000104517
OMIM: 608413, Gene2Phenotype
UBR5 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
29 individuals with a neurodevelopment syndrome (24 de novo variants) with a core phenotype characterised by developmental delay (26/28), autism (16/26), and intellectual disability (56%). Additionally, some individuals presented with epilepsy/seizures (11/27), movement disorders, and/or genital anomalies (35%). Loss of function is the expected mechanism of disease with functional experiments in C. elegans and in vitro ubiquitination assays.
Sources: LiteratureCreated: 5 Jan 2025, 5:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder MONDO:0700092, UBR5-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder MONDO:0700092, UBR5-related
- OMIM
- 608413
- Clinvar variants
- Variants in UBR5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
5 Jan 2025, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ubr5 has been classified as Green List (High Evidence).
5 Jan 2025, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ubr5 has been classified as Green List (High Evidence).
5 Jan 2025, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: UBR5 was added gene: UBR5 was added to Autism. Sources: Literature 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 Neurodevelopmental disorder MONDO:0700092, UBR5-related Review for gene: UBR5 was set to GREEN