Dyslipidaemia
Gene: APOC3
PMID: 19074352 - p.19* is found at 5% frequency within the Old Amish subpopulation with lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol.
Currently in ClinVar as 1x path, 2x likely benign (most recent)
ClinVar: 2 missense variants, submissions >30 years old.Created: 6 May 2022, 4:42 a.m. | Last Modified: 6 May 2022, 4:45 a.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PMID: 19074352
Publications
Gene: apoc3 has been classified as Red List (Low Evidence).
Phenotypes for gene: APOC3 were changed from Apolipoprotein C-III deficiency to Apolipoprotein C-III deficiency MIM#614028
Publications for gene: APOC3 were set to
Gene: apoc3 has been classified as Red List (Low Evidence).
gene: APOC3 was added gene: APOC3 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOC3 were set to Apolipoprotein C-III deficiency