UBQLN1

ubiquilin 1
OMIM: 605046, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red UBQLN1 in Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.7
Latest signed off version: v3.6 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease