Severe hypertriglyceridaemia
Gene: LPLComment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 4 May 2017, 2:44 p.m.
Comment on mode of inheritance: Combined hyperlipidemia, familial 144250 AD and
Lipoprotein lipase deficiency 238600 ARCreated: 4 May 2017, 2:40 p.m.
Most common. Carriers may have modest to significant elevation of TG depending on co-inheritance of other TG raising SNPsCreated: 4 May 2017, 9:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Combined hyperlipidemia, familial
Review added and all genes checked
This gene has been classified as Green List (High Evidence).
Phenotypes for LPL were set to Combined hyperlipidemia, familial 144250; Lipoprotein lipase deficiency, 238600
Mode of inheritance for LPL was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
LPL was added to Severe hypertriglyceridaemiapanel. Source: UKGTN
LPL was added to Severe hypertriglyceridaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
LPL was added to Severe hypertriglyceridaemiapanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene LPL was set to BIALLELIC, autosomal or pseudoautosomal
LPL was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing
LPL was created by ellenmcdonagh