CLCN2

CLCN2

chloride voltage-gated channel 2

HCNC Approved Symbol: CLCN2 (HGNC:2020)
Genomic Coordinates: 3:184,346,185 - 184,361,605 (3q27.1)
Synonyms: CLC2, EJM6, ClC-2
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the CLCN2 gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Hypertrophic cardiomyopathy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Leukodystrophy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Epilepsy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30