GJB1 - Gene browser

GJB1

gap junction protein beta 1

HCNC Approved Symbol: GJB1 (HGNC:4283)
Genomic Coordinates: 23:71,215,239 - 71,225,516 (Xq13.1)
Synonyms: CX32, CMTX1, CMTX
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

44Patients

In total, 44 patients were diagnosed with a variant in the GJB1 gene.

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

044
Patient count

Peripheral neuropathy: 15 (34.1%)
Patient Count: 15 (34.1%)
% of total patients presenting each phenotype is shown in parentheses.
15 (34.1%)
Pes cavus: 6 (13.6%)
Patient Count: 6 (13.6%)
% of total patients presenting each phenotype is shown in parentheses.
6 (13.6%)
Muscle weakness: 5 (11.4%)
Patient Count: 5 (11.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (11.4%)
Neuropathy: 4 (9.1%)
Patient Count: 4 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (9.1%)
Distal muscle weakness: 3 (6.8%)
Patient Count: 3 (6.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (6.8%)