KCNE1 - Gene browser

KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1

HCNC Approved Symbol: KCNE1 (HGNC:6240)
Genomic Coordinates: 21:34,446,688 - 34,512,210 (21q22.12)
Synonyms: minK, IsK, JLNS2, LQT5
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the KCNE1 gene.

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

02
Patient count

Arrhythmia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Cardiomyopathy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Retinitis pigmentosa: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Rod-cone dystrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Arrhythmias: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)