PKP2 - Gene browser

PKP2

plakophilin 2

HCNC Approved Symbol: PKP2 (HGNC:9024)
Genomic Coordinates: 12:32,790,755 - 32,896,777 (12p11.21)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the PKP2 gene.

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

017
Patient count

Left ventricular hypertrophy: 5 (29.4%)
Patient Count: 5 (29.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (29.4%)
Heart failure: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Failure to thrive: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Hypotonia, generalized: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Micrognathia: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)