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SYNGAP1

synaptic Ras GTPase activating protein 1

SYNGAP1

Approved Name: synaptic Ras GTPase activating protein 1
SYNGAP1 aliases: SYNGAP, RASA5, KIAA1938
Chromosomal Location: 6p21.32
HGNC: HGNC:11497
Tier 1 Gene with three or more de novo pathogenic loss-of-function variants
19.65 Haploinsufficiency Score (Decipher)
1 Probability of Being LoF Intolerant (gnomAD)
Last Updated: Dec 31, 2019
NCBI Gene
Gene Reviews

Cases

Patient ID * Disorder(s) Variant Type Inheritance Method Chromosome * Start Coordinate * End Coordinate * CNV Size * Genome Build * Coding DNA Change * Protein Change * Position * Reference Sequence * Alternate Sequence * Reference

References

Tan CA et. al., Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis., Clin Genet, 2016
Dyment DA et. al., Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study., Clin Genet, 2015
Yang Y et. al., Clinical whole-exome sequencing for the diagnosis of mendelian disorders., N Engl J Med, 2013
Yamamoto T et. al., Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders., Brain Dev, 2019
Helbig KL et. al., Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy., Genet Med, 2016
Costain G et. al., Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy., Neuroscience, 2019
Lee H et. al., Clinical exome sequencing for genetic identification of rare Mendelian disorders., JAMA, 2014
Iossifov I et. al., The contribution of de novo coding mutations to autism spectrum disorder., Nature, 2014
Deciphering Developmental Disorders Study. et. al., Large-scale discovery of novel genetic causes of developmental disorders., Nature, 2015
De Rubeis S et. al., Synaptic, transcriptional and chromatin genes disrupted in autism., Nature, 2014
Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019
Redin C et. al., Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing., J Med Genet, 2014
Jang SS et. al., Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life., Front Neurol, 2019
Kothur K et. al., Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy., Seizure, 2018
Kim SY et. al., Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies., Seizure, 2019
Halvardson J et. al., Mutations in HECW2 are associated with intellectual disability and epilepsy., J Med Genet, 2016
Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018
Aspromonte MC et. al., Characterization of intellectual disability and autism comorbidity through gene panel sequencing., Hum Mutat, 2019
Hamdan FF et. al., Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation., N Engl J Med, 2009
Berryer MH et. al., Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency., Hum Mutat, 2013
Hamdan FF et. al., De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism., Biol Psychiatry, 2011
Fernández-Marmiesse A et. al., Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients., Front Neurosci, 2019
Chérot E et. al., Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients., Clin Genet, 2018
Vlaskamp DRM et. al., <i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathy., Neurology, 2019
Hamdan FF et. al., Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability., Am J Hum Genet, 2011
Ko A et. al., Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy., Epilepsy Res, 2018
Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016
Feliciano P et. al., Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes., NPJ Genom Med, 2019
Carvill GL et. al., Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1., Nat Genet, 2013
Vissers LE et. al., A de novo paradigm for mental retardation., Nat Genet, 2010
Xu B et. al., De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia., Nat Genet, 2012
Takata A et. al., Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy., Nat Commun, 2019
Purcell SM et. al., A polygenic burden of rare disruptive mutations in schizophrenia., Nature, 2014
Kimura Y et. al., Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms., Congenit Anom (Kyoto), 2018