LPL

lipoprotein lipase
OMIM: 609708, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green LPL in Severe hypertriglyceridaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Combined hyperlipidemia, familial 144250 Lipoprotein lipase deficiency, 238600
Red LPL in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	review	Not set	Sources Emory Genetics Laboratory Phenotypes Hypercholesterolemia
Green LPL in Familial chylomicronaemia syndrome (FCS) Level 2: Lipids Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Lipoprotein lipase deficiency OMIM:238600 familial lipoprotein lipase deficiency MONDO:0009387 Combined hyperlipidemia, familial OMIM:144250 hyperlipidemia, familial combined, LPL related MONDO:0007759
Red LPL in Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes lipoprotein lipase deficiency transient neonatal diabetes
Green LPL in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Lipoprotein lipase deficiency, 238600 Combined hyperlipidemia, familial, 144250
Green LPL in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lipoprotein lipase deficiency, 238600 Combined hyperlipidemia, familial, 144250 Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Red LPL in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH