Familial hypercholesterolaemia

Gene: APOC2

Red List (low evidence)

APOC2 (apolipoprotein C2)
EnsemblGeneIds (GRCh38): ENSG00000234906
EnsemblGeneIds (GRCh37): ENSG00000234906
OMIM: 608083, Gene2Phenotype
APOC2 is in 9 panels

1 review

Ellen Thomas (Genomics England)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Hyperlipoproteinemia, type Ib 207750
OMIM
608083
Clinvar variants
Variants in APOC2
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Feb 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for APOC2 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Feb 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APOC2 were set to Hyperlipoproteinemia, type Ib 207750

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

APOC2 was added to Familial hypercholesterolaemiapanel. Sources: Emory Genetics Laboratory