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  2. Episodic Ataxia
  3. UBR4
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Episodic Ataxia

Gene: UBR4

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Episodic ataxia reported in two families, but another molecular diagnosis present in the second, so suggested as a modifier. Only one individual reported with childhood-onset progressive neurological disorder as part of a large paper proposing multiple candidate genes.
Created: 6 Feb 2020, 4:22 a.m. | Last Modified: 6 Feb 2020, 4:22 a.m.
Panel Version: 0.1262

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia; progressive neurological deterioration

Publications

Created: 6 Feb 2020, 4:22 a.m.
Last Modified: 6 Feb 2020, 4:22 a.m.
Panel version: Imported from Ataxia - paediatric panel version Imported from Mendeliome panel version 0.1262

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia type 8
OMIM
609890
Clinvar variants
Variants in UBR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr4 has been classified as Amber List (Moderate Evidence).

13 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBR4 were set to

30 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ubr4 has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UBR4 was added gene: UBR4 was added to Episodic Ataxia. Sources: Literature Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UBR4 were set to Episodic ataxia type 8