APOA5

apolipoprotein A5
OMIM: 606368, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green APOA5 in Severe hypertriglyceridaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia type V MONDO:0007762 {Hypertriglyceridemia, susceptibility to} OMIM:145750 hypertriglyceridemia, familial MONDO:0007788
Red APOA5 in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Phenotypes Hyperchylomicronemia, late-onset 144650 {Hypertriglyceridemia, susceptibility to} 145750
Green APOA5 in Familial chylomicronaemia syndrome (FCS) Level 2: Lipids Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia type V MONDO:0007762 {Hypertriglyceridemia, susceptibility to} OMIM:145750 hypertriglyceridemia, familial MONDO:0007788
Green APOA5 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia type V MONDO:0007762 {Hypertriglyceridemia, susceptibility to} OMIM:145750 hypertriglyceridemia, familial MONDO:0007788
Green APOA5 in Likely inborn error of metabolism Level 2: Metabolic Version 8.98 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia type V MONDO:0007762 {Hypertriglyceridemia, susceptibility to} OMIM:145750 hypertriglyceridemia, familial MONDO:0007788
Red APOA5 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH