SHANK2 and Phelan-McDermid syndrome: Mutations within the SHANK family of genes (comprising SHANK1, PROSAP1/SHANK2 and PROSAP2/SHANK3) are over-represented in the autism spectrum disorder (ASD) population and are the cause of specific disorders such as Phelan-McDermid Syndrome (Jiang and Ehlers, 2013).