PNPLA2

patatin like phospholipase domain containing 2
OMIM: 609059
PanelMode of inheritanceDetails
1 panel
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DCM, Neutral lipid storage disease with myopathy NLSDM, Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes