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Inborn errors of metabolism

Gene: APOC2

Green List (high evidence)

APOC2 (apolipoprotein C2)
EnsemblGeneIds (GRCh38): ENSG00000234906
EnsemblGeneIds (GRCh37): ENSG00000234906
OMIM: 608083, Gene2Phenotype
APOC2 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 13 variants reported
Created: 23 Feb 2017, 5:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperlipoproteinemia, type Ib 207750

Publications

Details

Mode of Inheritance
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)
OMIM
608083
Clinvar variants
Variants in APOC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to APOC2. Source London North GLH was added to APOC2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: APOC2 was added gene: APOC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APOC2 were set to 27604308 Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib 207750; Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)