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Dyslipidaemia

Gene: APOC2

Green List (high evidence)
APOC2 (apolipoprotein C2)
EnsemblGeneIds (GRCh38): ENSG00000234906
EnsemblGeneIds (GRCh37): ENSG00000234906
OMIM: 608083, Gene2Phenotype
APOC2 is in 3 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32562799 - K/O hampster model shows neonatal lethality, but injection of AAV-hApoC2 can rescue neonatal death.

PMID: 26044956 - Loss of function zebrafish model has hypertriglyceridemia, could be rescued by injection of plasma from wild-type zebrafish

PMID: 32292609 - 43yo male with familial chylomicronemia syndrome (FCS) and apoC-II deficiency. Patient was homozygous for a missense variant, no functional studies performed.

PMID: 32280258 - 50yo female with FCS and homozygous fs variant. In the last four years, her triglycerides and lipase concentration reached >3000 mg/dL and >700 U/L, respectively.
Created: 6 May 2022, 4:53 a.m. | Last Modified: 6 May 2022, 4:53 a.m.
Panel Version: 0.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperlipoproteinemia, type Ib MIM#207750

Publications

Created: 6 May 2022, 4:53 a.m.
Last Modified: 6 May 2022, 4:53 a.m.
Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperlipoproteinemia, type Ib MIM#207750
OMIM
608083
Clinvar variants
Variants in APOC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib MIM#207750 to Hyperlipoproteinemia, type Ib MIM#207750

6 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib to Hyperlipoproteinemia, type Ib MIM#207750

6 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: apoc2 has been classified as Green List (High Evidence).

6 May 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: APOC2 were set to

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: APOC2 was added gene: APOC2 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib