Additional file 1: of Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Table S1. Loss of function and de novo missense variants in SHANK3 reported previously. Table S2. Clinical features of individuals with pathogenic or likely pathogenic SHANK3 variants reported in the literature. Table S3. In silico prediction of pathogenicity of missense variants in SHANK3 identified in this study and in the literature. Table S4. Reported truncating and in-frame variants in SHANK3 unlikely to be pathogenic. (XLSX 84Â kb)