Severe hypertriglyceridaemia

Gene: LMF1

Comment on list classification: 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: 23 Jul 2019, 11:05 a.m. | Last Modified: 23 Jul 2019, 11:05 a.m.

Panel Version: 1.11

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 2 variants reported

Created: 4 May 2017, 3:04 p.m.

Green List (high evidence)

Rare

Created: 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipase deficiency, combined