Kids
GRL18-P1137 is a gene that is part of the SickKids gene panel, a comprehensive gene list designed to aid in the diagnosis of intellectual disability, autism and related disorders. The panel covers a wide range of genes associated with these disorders and also includes genes associated with epileptic disorders, inborn errors of metabolism, mitochondrial disorders, and genetic disorders of the eye. GRL18-P1137 is a gene linked to Autism Spectrum Disorder, and specifically encodes a protein called RIOK2. RIOK2 is a member of a class of proteins called kinases, which are proteins that modify other proteins and play a role in signal transduction pathways. Mutations in RIOK2 have been associated with autism spectrum disorder, macrocephaly, and other neurodevelopmental disorders. Research into RIOK2 is currently ongoing and its exact mechanisms in neurodevelopment are still being elucidated.