LPL

lipoprotein lipase
OMIM: 609708
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lipoprotein lipase deficiency, 238600, Combined hyperlipidemia, familial, 144250, Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
R-numbers: R324
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lipoprotein lipase deficiency OMIM:238600, familial lipoprotein lipase deficiency MONDO:0009387, Combined hyperlipidemia, familial OMIM:144250, hyperlipidemia, familial combined, LPL related MONDO:0007759