1. Panels
  2. Dyslipidaemia
  3. APOC3
STRs in panel
Prev Next
Regions in panel
Prev Next

Dyslipidaemia

Gene: APOC3

Red List (low evidence)
APOC3 (apolipoprotein C3)
EnsemblGeneIds (GRCh38): ENSG00000110245
EnsemblGeneIds (GRCh37): ENSG00000110245
OMIM: 107720, Gene2Phenotype
APOC3 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

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

Created: 6 May 2022, 4:42 a.m.
Last Modified: 6 May 2022, 4:45 a.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Apolipoprotein C-III deficiency MIM#614028
OMIM
107720
Clinvar variants
Variants in APOC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 May 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: apoc3 has been classified as Red List (Low Evidence).

6 May 2022, Gel status: 1

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: APOC3 were changed from Apolipoprotein C-III deficiency to Apolipoprotein C-III deficiency MIM#614028

6 May 2022, Gel status: 1

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: APOC3 were set to

6 May 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: apoc3 has been classified as Red List (Low Evidence).

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

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