APOA5

apolipoprotein A5
OMIM: 606368, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green APOA5 in Severe hypertriglyceridaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.17	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 1.30	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) Version 3.3 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 1.617	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 - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green APOA5 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hyperchylomicronemia, late-onset, 144650