Dyslipidaemia
Gene: APOC2
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
Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib MIM#207750 to Hyperlipoproteinemia, type Ib MIM#207750
Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib to Hyperlipoproteinemia, type Ib MIM#207750
Gene: apoc2 has been classified as Green List (High Evidence).
Publications for gene: APOC2 were set to
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