rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.
15312654
2004
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
19196676
2009
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Functional impact of global rare copy number variation in autism spectrum disorders.
20531469
2010
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
21237447
2011
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
21376300
2011
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
22604720
2012
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.
23141534
2012
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937
2012
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
23161826
2013
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
26079862
2015
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Large-scale discovery of novel genetic causes of developmental disorders.
25533962
2015
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
26989088
2016
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.
27827368
2016
rs1554304258
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
28576131
2017