Hereditary ataxia with onset in adulthood

Gene: EXOSC8

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.

Created: 11 Mar 2026, 4:40 p.m. | Last Modified: 11 Mar 2026, 4:40 p.m.

Panel Version: 8.25

Comment on list classification: This gene should be demoted from Green to Red on this panel.

There are currently five reported families with biallelic variants in this gene, all presenting with an infantile-onset disorder (latest reported age of onset is 6 months) (PMIDs: 24989451; 38017281; 34210538). Motor dysfunction is a prominent feature, although it does not overtly manifest as ataxia. Nevertheless, this gene has been added to the 'Ataxia and cerebellar anomalies - narrow panel' due to the presence of cerebellar hypoplasia in affected individuals, and because the early age of onset aligns more closely with that panel.

Created: 8 Sep 2025, 12:24 p.m. | Last Modified: 8 Sep 2025, 12:24 p.m.

Panel Version: 8.10

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.

Created: 15 Apr 2019, 10:21 a.m.

Green List (high evidence)

Looks like three families total but only two individual (homozygous ) variants between them. Very good segregation evidence and good functional evidence for gene itself

Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 1C