1. Genes and Genomic Entities
  2. UBR4

UBR4

ubiquitin protein ligase E3 component n-recognin 4
OMIM: 609890, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red UBR4 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Episodic ataxia
    Red UBR4 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Episodic ataxia
    Red UBR4 in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.7
    Latest signed off version: v4.6 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Episodic ataxia, type 8, 616055
    Red UBR4 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Episodic ataxia
    Red UBR4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Red UBR4 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review 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