IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 GeneticVariation disease CLINVAR Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors. 27369185 2017
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 CausalMutation disease CLINVAR The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. 28815955 2017
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 GeneticVariation disease CLINVAR Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. 27009485 2016
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 GeneticVariation disease CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735 2016
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		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
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 CausalMutation disease CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284 2016
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 GeneticVariation disease CLINVAR Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 GeneticVariation disease UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 Biomarker disease CTD_human Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 CausalMutation disease CLINVAR Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. 23674175 2014
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 GermlineCausalMutation disease ORPHANET Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 GeneticVariation disease CLINVAR Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		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
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 GeneticVariation disease UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.720 Biomarker disease BEFREE Non-specific mental retardations (MRX) are given unique symbols for each family (MRX1, MRX2, MRX3 ...). 1605216 1992
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		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
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE We have recently described an A350V mutation in IQSEC2 associated with intellectual disability, autism and epilepsy. 30842726 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 Biomarker disease BEFREE We draw parallels between the IQSEC2-related disorder and the Angelman-/Rett-/Pitt-Hopkins syndrome group of conditions and recommend the addition of IQSEC2 to epilepsy and developmental delay gene panels. 30666632 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 Biomarker disease BEFREE IQSEC2 is an X-linked gene correlated with intellectual disability and epilepsy. 31490346 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. 30206421 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy. 30328660 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. 28295038 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 Biomarker disease BEFREE The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735 2016