Hereditary ataxia - adult onsetGene: EXOSC9
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.
Four individual families reported but three share homozygosity for the same missense variant. Good functional evidence for gene. Cautiously Green List
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia type 1D, 618065
Mode of inheritance for gene: EXOSC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: exosc9 has been classified as Green List (High Evidence).
Added phenotypes Pontocerebellar hypoplasia type 1D, 618065 for gene: EXOSC9
Source NHS GMS was added to EXOSC9.
gene: EXOSC9 was added gene: EXOSC9 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EXOSC9 was set to