Genomics England
GMS Panels
Panels
Genes and Entities

EXOSC9

exosome component 9
OMIM: 606180
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1D, 618065