Hereditary ataxiaGene: GPAA1
Associated with phenotype in OMIM. At least 7 variants reported in 10 patients from 5 unrelated families with Glycosylphosphatidylinositol biosynthesis defect 15 (617810). The patients ranged in age from 3.8 to 30 years. All had mild to moderate intellectual disability, together with other features of developmental delay and cerebellar atrophy, which manifests as gait ataxia and dysarthria.
Created: 15 Mar 2018, 1:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Glycosylphosphatidylinositol biosynthesis defect 15, 617810
This gene has been classified as Green List (High Evidence).
GPAA1 was added to Hereditary ataxia panel. Sources: Literature
GPAA1 was created by Sarah Leigh