Our ES approach revealed pathogenic, likely pathogenic and VUS variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP1, HPCA, TSPOAP1 (BZRAP1), AOPEP (C9orf3)) as well as in the uncommonly dystonia-associated genes (PCCB, CACNA1A, ALDH5A1, PRKN) (table 2). The gene discussed is KMT2B; the disease is Dystonia.