Genomics England
GMS Panels
Panels
Genes and Entities

EXOSC5

exosome component 5
OMIM: 606492
PanelMode of inheritanceDetails
1 panel
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia