×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
CausalMutation
disease
CLINVAR
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
23674175
2014
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GeneticVariation
disease
CLINVAR
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
26793055
2015
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GeneticVariation
disease
CLINVAR
Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors.
27369185
2017
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GeneticVariation
disease
CLINVAR
Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.
27009485
2016
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GeneticVariation
disease
CLINVAR
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
27665735
2016
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GermlineCausalMutation
disease
ORPHANET
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
20473311
2010
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GeneticVariation
disease
UNIPROT
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
26793055
2015
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
Biomarker
disease
CTD_human
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
26793055
2015
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
Biomarker
disease
GENOMICS_ENGLAND
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
20473311
2010
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
CausalMutation
disease
CLINVAR
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
26733290
2016
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GeneticVariation
disease
CLINVAR
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
20473311
2010
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
Biomarker
disease
BEFREE
Non-specific mental retardations (MRX ) are given unique symbols for each family (MRX1 , MRX2, MRX3 ...).
1605216
1992
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
CausalMutation
disease
CLINVAR
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
28815955
2017
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
Biomarker
disease
BEFREE
Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX ) and were MRX1 , Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22.
1605217
1992
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GeneticVariation
disease
CLINVAR
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.
21686261
2010
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
GeneticVariation
disease
UNIPROT
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
20473311
2010
×
Entrez Id:
23096
Gene Symbol:
IQSEC2
IQSEC2
0.720
CausalMutation
disease
CLINVAR
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
27652284
2016
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.550
GeneticVariation
disease
BEFREE
Mutations in most of more than 20 known genes causing nonspecific form of X-linked MR (MRX ) are very rare and may account for less than 0.5-1% of MR. Linkage studies in extended pedigrees followed by mutational analysis of known MRX genes in the linked interval are often the only way to identify a genetic cause of the disorder.
19012350
2008
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.550
GeneticVariation
disease
BEFREE
The 13 MRX genes identified to date account for less than one-fifth of all MRX , suggesting that numerous gene defects cause the disorder in other families.
14628291
2003
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.550
GeneticVariation
disease
BEFREE
On the other hand, given the considerable genetic heterogeneity in MRX , one should be extremely cautious in using interfamilial linkage data to narrow down the localisation of MRX genes.
9783701
1998
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.550
GermlineCausalMutation
disease
ORPHANET
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
15185169
2004
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.550
GeneticVariation
disease
BEFREE
This pericentromeric clustering of MRX families suggests allelism, with a minimum of 2 X-linked mental retardation (XLMR ) genes in this region.
10449641
1999
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.550
Biomarker
disease
MGD
Altered thalamocortical development in the SAP102 knockout model of intellectual disability.
27466188
2016
×
Entrez Id:
1741
Gene Symbol:
DLG3
DLG3
0.550
GeneticVariation
disease
BEFREE
This MRX localization overlaps with 7 XLMR loci (MRX23, MRX27, MRX30, MRX35, MRX47, MRX53, and MRX63).
12949969
2003
×
Entrez Id:
2664
Gene Symbol:
GDI1
GDI1
0.500
Biomarker
disease
MGD
Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.
18829665
2009