Genes in panel

Hereditary ataxia - adult onset

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Insufficient evidence for any of the reported missenses (vast majority of which are present within gnomAD).
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia type 8, 616055

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Red
  • Hereditary ataxia v1.148
Phenotypes
  • Episodic ataxia
  • Episodic ataxia type 8, 616055
OMIM
609890
Clinvar variants
Variants in UBR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Episodic ataxia type 8, 616055 for gene: UBR4

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to UBR4.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to UBR4.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: UBR4 was added gene: UBR4 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 23982692 Phenotypes for gene: UBR4 were set to Episodic ataxia