×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
Biomarker
group
BEFREE
Mutations in SYNGAP1 result in a neurodevelopmental disorder termed Mental retardation -type 5 (MRD5 , OMIM #612621) with a phenotype consisting of intellectual disability , motor impairments, and epilepsy, attesting to the importance of this protein for normal brain development.
31454529
2019
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
Our data strongly suggest that the SYNGAP1 variant is causative of intellectual disability in this patient.
29381230
2018
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID ) with comorbid epilepsy and autistic features.
29402231
2018
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
The main clinical features of our patient (i.e., intellectual disability and idiopathic epilepsy) are compatible with previous reports on patients with SYNGAP1 mutations.
26110312
2015
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
Each individual carrying a DNM in SYNGAP1 had moderate-to-severe ID and 7/10 had epilepsy; typically myoclonic seizures, absences or drop attacks.
26079862
2015
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
Mutations in SYNGAP1 cause intellectual disability , autism, and a specific form of epilepsy by inducing haploinsufficiency.
23161826
2013
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability , seizures, and severe speech impairment.
23687080
2013
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
Biomarker
group
BEFREE
In the SYNGAP1 mouse model of ID /ASD, we found that dendritic spine synapses develop prematurely during the early postnatal period.
23141534
2012
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability , speech impairment, and epilepsy with myoclonic absences (EMA).
22050443
2011
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
21237447
2011
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
Biomarker
group
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
LHGDN
These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation .
19196676
2009
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
GeneticVariation
group
BEFREE
These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation .
19196676
2009
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.500
Biomarker
group
HPO