KCNQ2 - Gene browser

KCNQ2

potassium voltage-gated channel subfamily Q member 2

HCNC Approved Symbol: KCNQ2 (HGNC:6296)
Genomic Coordinates: 20:63,400,208 - 63,472,655 (20q13.33)
Synonyms: Kv7.2, ENB1, BFNC, KCNA11, HNSPC, EBN, EBN1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

48Patients

In total, 48 patients were diagnosed with a variant in the KCNQ2 gene.

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

048
Patient count

Epilepsy: 14 (29.2%)
Patient Count: 14 (29.2%)
% of total patients presenting each phenotype is shown in parentheses.
14 (29.2%)
Seizures: 14 (29.2%)
Patient Count: 14 (29.2%)
% of total patients presenting each phenotype is shown in parentheses.
14 (29.2%)
Global developmental delay: 12 (25.0%)
Patient Count: 12 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
12 (25.0%)
Epileptic encephalopathy: 7 (14.6%)
Patient Count: 7 (14.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (14.6%)
Seizure: 7 (14.6%)
Patient Count: 7 (14.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (14.6%)