CLCN7 - Gene browser

CLCN7

chloride voltage-gated channel 7

HCNC Approved Symbol: CLCN7 (HGNC:2025)
Genomic Coordinates: 16:1,444,935 - 1,475,028 (16p13.3)
Synonyms: CLC-7, OPTA2, CLC7, ClC-7, PPP1R63
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the CLCN7 gene.

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

010
Patient count

Osteopetrosis: 6 (60.0%)
Patient Count: 6 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (60.0%)
Recurrent fractures: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Anemia: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hepatosplenomegaly: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Low platelet count: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)