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  3. UBR4
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Paroxysmal Dyskinesia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Four unrelated individuals reported with missense variants in this gene and episodic ataxia. However, no segregation or functional data to support gene-disease association, and some of the variants are present at a low frequency in population databases. Variants in other putative ataxia genes present in some of the individuals.
Created: 10 Sep 2020, 4:45 a.m. | Last Modified: 10 Sep 2020, 4:46 a.m.
Panel Version: 0.58

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia

Publications

Created: 10 Sep 2020, 4:45 a.m.
Last Modified: 10 Sep 2020, 4:46 a.m.
Panel version: 0.58

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • early onset episodic ataxia
  • nystagmus
  • myokymia
  • tremor
OMIM
609890
Clinvar variants
Variants in UBR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr4 has been classified as Red List (Low Evidence).

10 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094

10 Sep 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ubr4 has been classified as Red List (Low Evidence).

9 Sep 2020, Gel status: 0

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

Eunice Chan (Royal Children's Hospital)

gene: UBR4 was added gene: UBR4 was added to Paroxysmal Dyskinesia. Sources: Expert list Mode of inheritance for gene: UBR4 was set to Unknown Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094 Phenotypes for gene: UBR4 were set to early onset episodic ataxia; nystagmus; myokymia; tremor