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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 v1.10 CREB3L3 Sarah Leigh Classified gene: CREB3L3 as Green List (high evidence)
Severe hypertriglyceridaemia v1.10 CREB3L3 Sarah Leigh Gene: creb3l3 has been classified as Green List (High Evidence).
Severe hypertriglyceridaemia v1.9 CREB3L3 Sarah Leigh gene: CREB3L3 was added
gene: CREB3L3 was added to Severe hypertriglyceridaemia. Sources: Literature
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREB3L3 were set to 29954705; 21666694; 26427795; 22135386
Phenotypes for gene: CREB3L3 were set to monogenic dominant hypertriglyceridemia associated with CREB3L3
Review for gene: CREB3L3 was set to GREEN
Added comment: Not associated with phenotype in OMIM (last updated in 02/06/2015) or in Gen2Phen. At least three terminating variants have been identified in unrelated cases, together with supportive functional studies
Sources: Literature
Severe hypertriglyceridaemia GPD1 Ellen McDonagh classified GPD1 as Green List (high evidence)
Severe hypertriglyceridaemia CELSR2 Sarah Leigh added CELSR2 to panel
Severe hypertriglyceridaemia CELSR2 Sarah Leigh reviewed CELSR2
Severe hypertriglyceridaemia Sarah Leigh promoted panel to version 1
Severe hypertriglyceridaemia LMF1 Sarah Leigh marked LMF1 as ready
Severe hypertriglyceridaemia LMF1 Sarah Leigh commented on LMF1
Severe hypertriglyceridaemia GPIHBP1 Sarah Leigh marked GPIHBP1 as ready
Severe hypertriglyceridaemia GPIHBP1 Sarah Leigh commented on GPIHBP1
Severe hypertriglyceridaemia GPIHBP1 Sarah Leigh classified GPIHBP1 as green
Severe hypertriglyceridaemia GPD1 Sarah Leigh marked GPD1 as ready
Severe hypertriglyceridaemia GPD1 Sarah Leigh commented on GPD1
Severe hypertriglyceridaemia APOA5 Sarah Leigh classified APOA5 as green
Severe hypertriglyceridaemia LPL Sarah Leigh marked LPL as ready
Severe hypertriglyceridaemia LPL Sarah Leigh commented on LPL
Severe hypertriglyceridaemia LMF1 steve Humphries reviewed LMF1
Severe hypertriglyceridaemia GPIHBP1 steve Humphries reviewed GPIHBP1
Severe hypertriglyceridaemia GPD1 steve Humphries reviewed GPD1
Severe hypertriglyceridaemia APOA5 steve Humphries reviewed APOA5
Severe hypertriglyceridaemia LPL steve Humphries reviewed LPL
Severe hypertriglyceridaemia APOC2 steve Humphries reviewed APOC2
Severe hypertriglyceridaemia APOC2 Sarah Leigh marked APOC2 as ready
Severe hypertriglyceridaemia APOC2 Sarah Leigh commented on APOC2
Severe hypertriglyceridaemia APOC2 Sarah Leigh classified APOC2 as green
Severe hypertriglyceridaemia APOA5 Sarah Leigh edited their review of APOA5
Severe hypertriglyceridaemia APOA5 Sarah Leigh commented on APOA5
Severe hypertriglyceridaemia LMF1 Ellen McDonagh added LMF1 to panel
Severe hypertriglyceridaemia LMF1 Ellen McDonagh reviewed LMF1
Severe hypertriglyceridaemia GPIHBP1 Ellen McDonagh added GPIHBP1 to panel
Severe hypertriglyceridaemia GPIHBP1 Ellen McDonagh reviewed GPIHBP1
Severe hypertriglyceridaemia APOC2 Ellen McDonagh added APOC2 to panel
Severe hypertriglyceridaemia APOC2 Ellen McDonagh reviewed APOC2
Severe hypertriglyceridaemia APOA5 Ellen McDonagh added APOA5 to panel
Severe hypertriglyceridaemia APOA5 Ellen McDonagh reviewed APOA5
Severe hypertriglyceridaemia LPL Ellen McDonagh added LPL to panel
Severe hypertriglyceridaemia LPL Ellen McDonagh reviewed LPL
Severe hypertriglyceridaemia Ellen McDonagh approved panel