PTPRT

PTPRT encodes a receptor-type protein tyrosine phosphatase that regulates cellular signaling and adhesion in the central nervous system through its extracellular domain containing immunoglobulin-like repeats and intracellular catalytic domains. Mutations cause autosomal recessive neurodevelopmental disorders characterized by intellectual disability, autism spectrum disorder, and speech delays. This gene is highly constrained against loss-of-function variants in the general population, indicating that complete loss of function is likely not tolerated.