Genomics England
GMS Panels
Panels
Genes and Entities

EXOSC8

exosome component 8
OMIM: 606019
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1C