Severe hypertriglyceridaemia
Gene: APOC2EnsemblGeneIds (GRCh38): ENSG00000234906
EnsemblGeneIds (GRCh37): ENSG00000234906
OMIM: 608083, Gene2Phenotype
APOC2 is in 8 panels
3 reviews
steve Humphries (UCL)
Second most common. Carriers may have modest to significant elevation of TG depending on co-inheritance of other TG raising SNPsCreated: 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 reportedCreated: 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Review added and all genes checked
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APOC2 were set to Hyperlipoproteinemia, type Ib 207750
Added New Source
Olivia Niblock (Genomics England Curator)APOC2 was added to Severe hypertriglyceridaemiapanel. Source: UKGTN
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APOC2 were set to Hyperlipoproteinemia, type Ib 207750
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)APOC2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)APOC2 was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing