KCNJ13 - Gene browser

KCNJ13

potassium inwardly rectifying channel subfamily J member 13

HCNC Approved Symbol: KCNJ13 (HGNC:6259)
Genomic Coordinates: 2:232,765,802 - 232,776,565 (2q37.1)
Synonyms: Kir7.1, Kir1.4, LCA16
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the KCNJ13 gene.

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

04
Patient count

Retinitis pigmentosa: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Cone-rod dystrophy: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Retinal dystrophy: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Decreased visual acuity: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Night blindness: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)