1. Genes and Genomic Entities
  2. EXOSC5

EXOSC5

exosome component 5
OMIM: 606492, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber EXOSC5 in Ataxia and cerebellar anomalies - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Short stature
    • Motor developmental delays
    • Cerebellar hypoplasia
    • Ataxia