Periodic fever syndromes

Gene: APOC2

Green List (high evidence)

APOC2 (apolipoprotein C2)
EnsemblGeneIds (GRCh38): ENSG00000234906
EnsemblGeneIds (GRCh37): ENSG00000234906
OMIM: 608083, Gene2Phenotype
APOC2 is in 9 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Added missense tag.
Created: 26 Sep 2019, 2:18 p.m. | Last Modified: 26 Sep 2019, 2:18 p.m.
Panel Version: 1.12
Comment on list classification: After consultation with the Genomics England rare disease clinical team, upgrading this gene from Amber to Green. 2 cases with variants detected are reported, plus 4 other patients in which APOC2 p.Lys41Thr mutant protein was found by mass spectrometry.
Created: 26 Sep 2019, 2:18 p.m. | Last Modified: 26 Sep 2019, 2:18 p.m.
Panel Version: 1.12
PMID: 30197986 - Sethi et al 2018 - report 5 older adults (mean 71.6 years at diagnosis) presented with nephrotic-range proteinuria. All renal biopsy specimens showed massive mesangial nodules composed of weakly eosinophilic, periodic acid-Schiff negative, Congo red-positive amyloid deposits. APOC2 p.Lys41Thr mutant protein was found by mass spectrometry in amyloid deposits of all patients. DNA sequencing in 1 patient confirmed the presence of the mutation.

Now 2 patients with variant in the gene have been reported, but Sethi et al also report that mutant protein was found in 4 other patients.
Created: 13 Aug 2019, 12:58 p.m. | Last Modified: 13 Aug 2019, 12:58 p.m.
Panel Version: 1.11

Sarah Leigh (Genomics England Curator)

Associated with Hyperlipoproteinemia, type Ib 207750 in OMIM, not in G2P. At least 13 variants reported
Created: 28 Feb 2017, 9:33 a.m.

Alice Gardham (Genomics England)

I don't know

Mutation only reported in one patient but Apo-CII-rich amyloid deposits found in multiple patients with renal. Recent publication
Created: 2 Feb 2017, 2:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyloidosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Amyloidosis
Tags
missense
OMIM
608083
Clinvar variants
Variants in APOC2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: APOC2 were changed from Amyloidosis; Hyperlipoproteinemia, type Ib 207750 to Amyloidosis

26 Sep 2019, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag missense tag was added to gene: APOC2.

26 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

28 Feb 2017, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APOC2 were set to Amyloidosis; Hyperlipoproteinemia, type Ib 207750

28 Feb 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for APOC2 were set to 27840752; 27297947

22 Feb 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

2 Feb 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

APOC2 was added to Periodic fever syndromespanel. Sources: Literature

2 Feb 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

APOC2 was created by agardham