CLCN5 - Gene browser

CLCN5

chloride voltage-gated channel 5

HCNC Approved Symbol: CLCN5 (HGNC:2023)
Genomic Coordinates: 23:49,922,596 - 50,099,230 (Xp11.23)
Synonyms: DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5, NPHL2, NPHL1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the CLCN5 gene.

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

010
Patient count

Proteinuria: 9 (90.0%)
Patient Count: 9 (90.0%)
% of total patients presenting each phenotype is shown in parentheses.
9 (90.0%)
Medullary nephrocalcinosis: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hypercalciuria: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Short stature: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)
Global developmental delay: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)