Classification of GBA1 variants in Parkinson’s disease; the GBA1-PD browser

ABSTRACT Background GBA1 variants are among the most common genetic risk factors for Parkinson’s Disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher’s Disease (GD) or PD: severe, mild, and risk variant (for PD). Objectives This paper aims to generate and share a comprehensive database for GBA1 variants reported in PD to support future research and clinical trials. Methods We performed a literature search for all GBA1 variants that have been reported in PD. The data has been standardized and complimented with variant classification, Odds Ratio (OR) if available and other data. Results We found 371 GBA1 variants reported in PD: 22 mild, 84 severe, 3 risk variants, and 262 of unknown status. We created a browser, containing up-to-date information on these variants ( https://pdgenetics.shinyapps.io/GBA1Browser/ ). Conclusions The classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1 -PD.