Severe hypertriglyceridaemia
Gene: APOA5
Third most common. Carriers may have modest to significant elevation of TG depending on co-inheritance of other TG raising SNPsCreated: 4 May 2017, 9:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 5 Aug 2021, 4:40 p.m. | Last Modified: 5 Aug 2021, 4:40 p.m.
Panel Version: 1.16
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).Created: 5 Aug 2021, 4:23 p.m. | Last Modified: 5 Aug 2021, 4:23 p.m.
Panel Version: 1.16
Associated with phenotypes in OMIM, not in G2P. Associated with susceptibility to cardiovascular disease {Hypertriglyceridemia, susceptibility to} 145750. One variant reported in at least 4 unrelated cases of Hyperchylomicronemia, late-onset 144650 (both biallelic and monogenic)Created: 4 May 2017, 2:56 p.m.
Comment on mode of inheritance: Hyperchylomicronemia, late-onset 144650Created: 4 May 2017, 2:54 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Hypertriglyceridemia, susceptibility to}
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
Tag Q3_21_MOI was removed from gene: APOA5.
Tag Q3_21_MOI tag was added to gene: APOA5.
Publications for gene: APOA5 were set to 27604308; 12417525; 27678447; 16200213
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
Publications for gene: APOA5 were set to 16200213
Review added and all genes checked
Phenotypes for APOA5 were set to Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750
Mode of inheritance for APOA5 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for APOA5 were set to 16200213
APOA5 was added to Severe hypertriglyceridaemiapanel. Source: UKGTN
APOA5 was added to Severe hypertriglyceridaemiapanel. Source: Radboud University Medical Center, Nijmegen
Phenotypes for APOA5 were set to Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750
APOA5 was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing
APOA5 was created by ellenmcdonagh