APOC2

apolipoprotein C2
OMIM: 608083, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green APOC2 in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.34	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Amyloidosis Tags missense
Green APOC2 in Severe hypertriglyceridaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Expert Review Green Eligibility statement prior genetic testing Phenotypes Hyperlipoproteinemia, type Ib 207750
Red APOC2 in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Hyperlipoproteinemia, type Ib 207750
Green APOC2 in Familial chylomicronaemia syndrome (FCS) Level 2: Lipids Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Hyperlipoproteinemia, type Ib OMIM:207750
Green APOC2 in Hereditary systemic amyloidosis Level 2: Renal Version 1.28 Latest signed off version: v1.24 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Tags missense
Green APOC2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Hyperlipoproteinemia, type Ib 207750
Green APOC2 in Likely inborn error of metabolism Level 2: Metabolic Version 8.107 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	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperlipoproteinemia, type Ib 207750 Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Red APOC2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH