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: 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