UBR4:Ensemblv115

ubiquitin protein ligase E3 component n-recognin 4
OMIM: 609890, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red UBR4 in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • early onset episodic ataxia
  • nystagmus
  • myokymia
  • tremor

Amber UBR4 in Episodic Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Amber
Phenotypes
  • Episodic ataxia type 8