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Newborns main panel

Gene: APOC2

Green List (high evidence)
APOC2 (apolipoprotein C2)
EnsemblGeneIds (GRCh38): ENSG00000234906
EnsemblGeneIds (GRCh37): ENSG00000234906
OMIM: 608083, Gene2Phenotype
APOC2 is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/29100061/ PMID: 32292609 - 1 case PMID: 32280258 - 1 case PMID: 28201738 - 1 case PMID: 32205061 - 1 case PMID: 22239554 - 1 case. PMID: 36689289 - 5 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperlipoproteinemia, type Ib for gene: APOC2

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperlipoproteinemia, type Ib for gene: APOC2

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to APOC2. Added phenotypes Hyperlipoproteinemia, type Ib for gene: APOC2 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperlipoproteinemia, type Ib for gene: APOC2

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: APOC2 was added gene: APOC2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal