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Severe hypertriglyceridaemia

Gene: APOC2

Green List (high evidence)

APOC2 (apolipoprotein C2)
EnsemblGeneIds (GRCh38): ENSG00000234906
EnsemblGeneIds (GRCh37): ENSG00000234906
OMIM: 608083, Gene2Phenotype
APOC2 is in 10 panels

3 reviews

steve Humphries (UCL)

Green List (high evidence)

Second most common. Carriers may have modest to significant elevation of TG depending on co-inheritance of other TG raising SNPs
Created: 4 May 2017, 9:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 13 variants reported
Created: 28 Feb 2017, 9:37 a.m.

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperlipoproteinemia, type Ib

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hyperlipoproteinemia, type Ib 207750
OMIM
608083
Clinvar variants
Variants in APOC2
Penetrance
Complete
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Review added and all genes checked

4 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APOC2 were set to Hyperlipoproteinemia, type Ib 207750

6 Mar 2017, Gel status: 4

Added New Source

Olivia Niblock (Genomics England Curator)

APOC2 was added to Severe hypertriglyceridaemiapanel. Source: UKGTN

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APOC2 were set to Hyperlipoproteinemia, type Ib 207750

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

APOC2 was created by ellenmcdonagh

27 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

APOC2 was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing