GJA1 - Gene browser

GJA1

gap junction protein alpha 1

HCNC Approved Symbol: GJA1 (HGNC:4274)
Genomic Coordinates: 6:121,435,646 - 121,449,727 (6q22.31)
Synonyms: CX43, ODD, ODOD, SDTY3, ODDD, GJAL
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the GJA1 gene.

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

05
Patient count

Syndactyly: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Abnormal facial shape: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Aplasia/hypoplasia of the fibula: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Blue sclera: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Blue sclerae: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)