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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 LPL Sarah Leigh marked LPL as ready
Severe hypertriglyceridaemia LPL Sarah Leigh commented on LPL
Severe hypertriglyceridaemia LPL steve Humphries reviewed LPL
Severe hypertriglyceridaemia LPL Ellen McDonagh added LPL to panel
Severe hypertriglyceridaemia LPL Ellen McDonagh reviewed LPL