present in Gene: SHANK2
present in Chromosome: 11
Position on Chromosome: 71118963
Alleles of this Variant: G/A
rs1555100954 in
SHANK2 gene and
Dysmorphic features
PMID 27001614 2016 Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
PMID 25188300 2014 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PMID 22346768 2012 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.
PMID 27903723 2016 Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors.
PMID 20473310 2010 Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
PMID 21994763 2012 Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
PMID 28326932 2017 A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity.
PMID 25560758 2015 Identification and functional characterization of rare SHANK2 variants in schizophrenia.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 22699620 2012 Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.
rs1555100954 in
SHANK2 gene and
Overgrowth
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.
PMID 21994763 2012 Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
PMID 20473310 2010 Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
PMID 28326932 2017 A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity.
PMID 25560758 2015 Identification and functional characterization of rare SHANK2 variants in schizophrenia.
PMID 22346768 2012 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PMID 27001614 2016 Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
PMID 25188300 2014 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PMID 27903723 2016 Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors.
PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
PMID 22699620 2012 Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.