Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: UBR4

Red List (low evidence)

UBR4 (ubiquitin protein ligase E3 component n-recognin 4)
EnsemblGeneIds (GRCh38): ENSG00000127481
EnsemblGeneIds (GRCh37): ENSG00000127481
OMIM: 609890, Gene2Phenotype
UBR4 is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Episodic ataxia
OMIM
609890
Clinvar variants
Variants in UBR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: UBR4 was added gene: UBR4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBR4 were set to PMID: 23982692 Phenotypes for gene: UBR4 were set to Episodic ataxia