However, re-evaluating exome data in 2020 within the GPAP platform of the SolveRD project, identified two potentially pathogenic, intronic variants in the VPS13D gene (NM_018156.4: c.941 + 3A > G and c.2237−1G > A), which had been linked to spastic ataxia and spastic paraplegia as recently as in mid-2018 (Figure 2A). The gene discussed is VPS13D; the disease is spastic ataxia.