Familial chylomicronaemia syndrome (FCS)
Gene: LMF1
Variants in this GENE are reported as part of current diagnostic practice
PMID 17994020 and 19820022, both report homozygous terminating variants in severe hypertriglyceridemia, together with functional studies that showed significant reduction of LPL activity.
PMID 30885219: heterozygous LMF1 c.1024C > T (p.Arg342*; rs776584760) in a patient with Hypertriglyceridemia and acute pancreatitis (HTG-AP). PMID: 30420299 reports at least 2 likely pathogenic (terminating variants) heterozygous LMF1 variants from 13 variants in severe hypertriglyceridemia patients. PMID: 29910226 reports a compound heterozygous variants (c.257C>T, p.P86L & c.1184C>T,p.T395I) which segrates with hypertriglyceridemia in the family. However PMID: 22239554 reports that a number of missense variants don't have an effect.Created: 4 Jul 2019, 2:13 p.m. | Last Modified: 4 Jul 2019, 2:13 p.m.
Panel Version: 0.3
Phenotypes for gene: LMF1 were changed from Lipase deficiency, combined 246650 to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527
Publications for gene: LMF1 were set to 30885219
Publications for gene: LMF1 were set to
gene: LMF1 was added gene: LMF1 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMF1 were set to Lipase deficiency, combined 246650