EXOSC1

exosome component 1
OMIM: 606493, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red EXOSC1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.211
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia