KCNJ2 - Gene browser

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

HCNC Approved Symbol: KCNJ2 (HGNC:6263)
Genomic Coordinates: 17:70,169,532 - 70,180,044 (17q24.3)
Synonyms: Kir2.1, IRK1, LQT7
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the KCNJ2 gene.

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

05
Patient count

Distal muscle weakness: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Hyperextension of the knees: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Abnormality of the face: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Global developmental delay: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Microcephaly: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)