Severe hypertriglyceridaemia
Gene: LMF1Comment 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 reportedCreated: 4 May 2017, 3:04 p.m.
RareCreated: 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
Publications for gene: LMF1 were set to
Gene: lmf1 has been classified as Green List (High Evidence).
Review added and all genes checked
This gene has been classified as Red List (Low Evidence).
Phenotypes for LMF1 were set to Lipase deficiency, combined, 246650
LMF1 was added to Severe hypertriglyceridaemiapanel. Source: UKGTN
LMF1 was created by ellenmcdonagh
LMF1 was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing