1. Genes and Genomic Entities
  2. EXOSC1

EXOSC1

exosome component 1
OMIM: 606493, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red EXOSC1 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.30
Latest signed off version: v9.22 (12 Aug 2026)

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
    Amber EXOSC1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Pontocerebellar hypoplasia, type 1F, OMIM:619304