GJB2 - Gene browser

GJB2

gap junction protein beta 2

HCNC Approved Symbol: GJB2 (HGNC:4284)
Genomic Coordinates: 13:20,187,470 - 20,192,938 (13q12.11)
Synonyms: CX26, NSRD1, DFNB1, DFNA3
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

127Patients

In total, 127 patients were diagnosed with a variant in the GJB2 gene.

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

0127
Patient count

Hearing loss: 73 (57.5%)
Patient Count: 73 (57.5%)
% of total patients presenting each phenotype is shown in parentheses.
73 (57.5%)
Hearing impairment: 12 (9.4%)
Patient Count: 12 (9.4%)
% of total patients presenting each phenotype is shown in parentheses.
12 (9.4%)
Congenital deafness: 6 (4.7%)
Patient Count: 6 (4.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (4.7%)
Profound deafness: 4 (3.1%)
Patient Count: 4 (3.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (3.1%)
Severe deafness: 4 (3.1%)
Patient Count: 4 (3.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (3.1%)