Genomics England
GMS Panels
Panels
Genes and Entities

EXOSC9

exosome component 9
OMIM: 606180
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar Atrophy with Spinal Motor Neuronopathy
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 1D, OMIM:618065
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1D, 618065