EXOSC1:Ensemblv90

exosome component 1
OMIM: 606493, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red EXOSC1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.92

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

Red EXOSC1 in Mendeliome


Version 1.3802

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

Red EXOSC1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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