Naturally occurring SNPs in VPS41 have been described (T52R, T146P and A187T; Harrington etal, 2012; Ibarrola‐Villava etal, 2015), and very recently a single patient with early onset dystonia and a homozygous canonical splice site variant in VPS41 was identified (Steel etal, 2020). The gene discussed is VPS41; the disease is Dystonia.