Hereditary ataxiaGene: EXOSC3
Fine. PCH1B. Good evidence in lit, multiple families. Positive in our cohort
Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
This gene has been classified as Green List (High Evidence).
EXOSC3 was created by jonathan.williams
EXOSC3 was added to Hereditary ataxiapanel. Sources: Expert Review