Familial chylomicronaemia syndrome (FCS)
Gene: APOA5The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:20 a.m. | Last Modified: 1 Feb 2023, 11:20 a.m.
Panel Version: 2.3
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, 4:41 p.m. | Last Modified: 5 Aug 2021, 4:41 p.m.
Panel Version: 1.19
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, 4:24 p.m. | Last Modified: 5 Aug 2021, 4:24 p.m.
Panel Version: 1.19
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_MOI was removed from gene: APOA5.
Mode of inheritance for gene APOA5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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 OMIM:144650; hyperlipoproteinemia type V MONDO:0007762 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
Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762
gene: APOA5 was added gene: APOA5 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: APOA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset 144650