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Gene: LPL

Green List (high evidence)

The LPL gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant condition is AR Lipoprotein lipase deficiency MIM#238600.

Bi-allelic disease is severe and presents in infancy. Heterozygous parents may have symptoms, and although heterozygotes do not usually display the gross phenotypic features of lipoprotein lipase deficiency such as chylomicronemia, xanthomata, or episodes of abdominal pain, they have only half-normal LPL activity, which might not suffice to keep the plasma triglyceride concentration within normal limits when stress is placed on the plasma lipid transport system (OMIM).

Created: 14 Jan 2025, 3:28 a.m. | Last Modified: 14 Jan 2025, 3:28 a.m.

Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoprotein lipase deficiency MIM#238600