Clinical Domain Working Groups

About 15% of individuals with Parkinson’s disease (PD) have a hereditary form of the disease. The following genes have been curated as ‘Definitive’ by the ClinGen Parkinson’s Disease GCEP: GBA1, SNCA, VPS35, PARK7, PRKN, LRRK2, and PINK1.

In Phase 1, our VCEP will adapt the ACMG/AMP classification criteria for GBA1 as it is one of the most common causes of PD. We will then begin applying our SOP to classify variants with medically significant classification differences between laboratories (P/LP versus VUS/LB/B) with one star submissions as the highest priority.

In Phase 2, we will evaluate the applicability of the rules developed for GBA1 for all other definitive Parkinson’s genes, moving next to LRRK2, and modify our SOP accordingly. In time, we will expand our ongoing curation to include all other PD genes.