IQSEC2 - Gene browser

IQSEC2

IQ motif and Sec7 domain ArfGEF 2

HCNC Approved Symbol: IQSEC2 (HGNC:29059)
Genomic Coordinates: 23:53,225,813 - 53,321,350 (Xp11.22)
Synonyms: KIAA0522, BRAG1, IQ-ArfGEF, MRX1, MRX78, MRX18
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the IQSEC2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

013
Patient count

Seizures: 6 (46.2%)
Patient Count: 6 (46.2%)
% of total patients presenting each phenotype is shown in parentheses.
6 (46.2%)
Epilepsy: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Global developmental delay: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Microcephaly: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Developmental delay: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)