ACTN2 - Gene browser

ACTN2

actinin alpha 2

HCNC Approved Symbol: ACTN2 (HGNC:164)
Genomic Coordinates: 1:236,686,499 - 236,764,631 (1q43)
Synonyms
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the ACTN2 gene.

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

05
Patient count

Left ventricular hypertrophy: 3 (60.0%)
Patient Count: 3 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (60.0%)
Bilateral ptosis: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
High, narrow palate: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Muscle weakness: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Recurrent respiratory infections: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)