EXOSC1

exosome component 1
OMIM: 606493, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red EXOSC1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 1F, MIM# 619304

Red EXOSC1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 1F, MIM# 619304