APOC2

apolipoprotein C2
OMIM: 608083, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green APOC2 in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Amyloidosis
  • Hyperlipoproteinemia, type Ib 207750
Tags
  • missense

Green APOC2 in Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.12

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 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Hyperlipoproteinemia, type Ib 207750

Green APOC2 in Lipoprotein lipase deficiency


Version 1.15
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Hyperlipoproteinemia, type Ib OMIM:207750

Green APOC2 in Amyloidosis


Version 1.16
Latest signed off version: v1.13 (18 Aug 2021)

Component of the following Super Panels:

  • Renal superpanel - broad
  • 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 1.450

    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 Inborn errors of metabolism


    Version 2.105
    Latest signed off version: v2.104 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green APOC2 in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperlipoproteinemia, type Ib, 207750

    Green APOC2 in NewbornFullV1


    Version 0.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green