Likely inborn error of metabolism - targeted testing not possible
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, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
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: 2.171
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, 4:30 p.m. | Last Modified: 5 Aug 2021, 4:30 p.m.
Panel Version: 2.171
Associated with phenotypes in OMIM, not in G2P. Associated with susceptibility to cardiovascular disease {Hypertriglyceridemia, susceptibility to} 145750. Two variants reported in at least 4 unrelated cases of Hyperchylomicronemia, late-onset 144650 (biallelic)Created: 23 Feb 2017, 5:11 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
Publications
Tag Q3_21_MOI was removed from gene: APOA5.
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 tag was added to gene: APOA5.
Publications for gene: APOA5 were set to 27604308; 27678447; 16200213; 12417525; 23307945
Publications for gene: APOA5 were set to 27604308; 27678447; 16200213; 12417525
Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {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 27604308; 27678447; 16200213
Publications for gene: APOA5 were set to 27604308; 27678447; 16200213
Publications for gene: APOA5 were set to 27604308; 27678447; 16200213
Publications for gene: APOA5 were set to 27604308
Source NHS GMS was added to APOA5. Source London North GLH was added to APOA5.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: APOA5 was added gene: APOA5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOA5 were set to 27604308 Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {Hypertriglyceridemia, susceptibility to} 145750