Paroxysmal Dyskinesia
Gene: UBR4
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
Gene: ubr4 has been classified as Red List (Low Evidence).
Publications for gene: UBR4 were set to PMID 23982692 PMID 29062094
Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ubr4 has been classified as Red List (Low Evidence).
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