Genomics England
GMS Panels
Panels
Genes and Entities

LPL

lipoprotein lipase
OMIM: 609708
PanelMode of inheritanceDetails
2 panels
Green
in Familial chylomicronaemia syndrome (FCS)
R-numbers: R324
Signed-off version 3.0
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
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Lipoprotein lipase deficiency, 238600, Combined hyperlipidemia, familial, 144250, Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)