Genomics England
GMS Panels
Panels
Genes and Entities

EXOSC8

exosome component 8
OMIM: 606019
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EXOSC8-related pontocerebellar hypoplasia, OMIM:616081
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1C