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Severe hypertriglyceridaemia v1.12 LMF1 Sarah Leigh Publications for gene: LMF1 were set to
Severe hypertriglyceridaemia v1.11 LMF1 Sarah Leigh Classified gene: LMF1 as Green List (high evidence)
Severe hypertriglyceridaemia v1.11 LMF1 Sarah Leigh Added comment: 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.
Severe hypertriglyceridaemia v1.11 LMF1 Sarah Leigh Gene: lmf1 has been classified as Green List (High Evidence).
Severe hypertriglyceridaemia LMF1 Sarah Leigh marked LMF1 as ready
Severe hypertriglyceridaemia LMF1 Sarah Leigh commented on LMF1
Severe hypertriglyceridaemia LMF1 steve Humphries reviewed LMF1
Severe hypertriglyceridaemia LMF1 Ellen McDonagh added LMF1 to panel
Severe hypertriglyceridaemia LMF1 Ellen McDonagh reviewed LMF1