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GENATLAS PHENOTYPE
last update : 06-12-2014
Symbol AUTS20
Location 22q13.3
Name autism spectrum disorder, 20
Corresponding gene SHANK3
Other symbol(s) ASD
Main clinical features
  • complex neurodevelopmental disorder characterized by impairment in social interaction, restricted and stereotyped behaviors, and deficits in language and communication
    • Genetic determination multigenic
    Function/system disorder
    Type susceptibility factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s)
  • associated to polymorphisms in SHANK3
  • postsynaptic signal transduction may be altered in neurons carrying the L68P mutant form of SHANK3 (PMID: 23897824))