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Severe hypertriglyceridaemia v1.17 APOA5 Arina Puzriakova Mode of inheritance for gene: APOA5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe hypertriglyceridaemia v1.16 APOA5 Arina Puzriakova Tag Q3_21_MOI was removed from gene: APOA5.
Severe hypertriglyceridaemia v1.16 APOA5 Sarah Leigh commented on gene: APOA5: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Severe hypertriglyceridaemia v1.16 APOA5 Sarah Leigh Tag Q3_21_MOI tag was added to gene: APOA5.
Severe hypertriglyceridaemia v1.16 APOA5 Sarah Leigh edited their review of gene: APOA5: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for familial hypertriglycidaemia. Both risk polymorphisms (PMID 12417525; 12915450) and rarer APOA5 variants have been identified in hyperchylomicronemia, late-onset (OMIM:144650) and susceptibility to hypertriglyceridemia (OMIM:145750)(PMID: 23307945; 27678447; 16200213). In general, cases carrying biallelic variants (both polymorphisms and rarer variants) have a severer phenotype than monoallelic carriers (PMID: 12417525; 23307945; 27678447; 16200213).; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Severe hypertriglyceridaemia v1.16 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308; 12417525; 27678447; 16200213
Severe hypertriglyceridaemia v1.15 APOA5 Sarah Leigh Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762; {Hypertriglyceridemia, susceptibility to} OMIM:145750; hypertriglyceridemia, familial MONDO:0007788
Severe hypertriglyceridaemia v1.14 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 16200213
Severe hypertriglyceridaemia APOA5 Sarah Leigh classified APOA5 as green
Severe hypertriglyceridaemia APOA5 steve Humphries reviewed APOA5
Severe hypertriglyceridaemia APOA5 Sarah Leigh edited their review of APOA5
Severe hypertriglyceridaemia APOA5 Sarah Leigh commented on APOA5
Severe hypertriglyceridaemia APOA5 Ellen McDonagh added APOA5 to panel
Severe hypertriglyceridaemia APOA5 Ellen McDonagh reviewed APOA5