Fig. 1
Schematic overview of selected mTOR-related genes. Schematic representation of the genes (n = 101) included in our mTOR-related gene-set based on three different authorative publications59,60,61. Both proteins acting upstream of mTOR and proteins acting downstream of mTOR were included. Additionally, we subdivided the total set in two subsets: the RAS-MAPK-mTOR subset and the PI3K-AKT-mTOR subset. In both subsets, downstream genes are included as well. Genes in which we identified de novo mutations in this study were marked with a yellow star, and genes previously reported to cause ID and (relative) macrocephaly are shown in bolt and dark green
