PNPLA2 - Gene browser

PNPLA2

patatin like phospholipase domain containing 2

HCNC Approved Symbol: PNPLA2 (HGNC:30802)
Genomic Coordinates: 11:818,914 - 825,573 (11p15.5)
Synonyms: desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the PNPLA2 gene.

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

03
Patient count

Elevated creatine kinase: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Orthostatic syncope: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Hypertrophic cardiomyopathy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Muscle lipidosis: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Myopathy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)