Periodic fever syndromes
Gene: APOC2EnsemblGeneIds (GRCh38): ENSG00000234906
EnsemblGeneIds (GRCh37): ENSG00000234906
OMIM: 608083, Gene2Phenotype
APOC2 is in 8 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 reportedCreated: 28 Feb 2017, 9:33 a.m.
Alice Gardham (Genomics England)
Mutation only reported in one patient but Apo-CII-rich amyloid deposits found in multiple patients with renal. Recent publicationCreated: 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
- OMIM
- 608083
- Clinvar variants
- Variants in APOC2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: APOC2 were changed from Amyloidosis; Hyperlipoproteinemia, type Ib 207750 to Amyloidosis
Added Tag
Eleanor Williams (Genomics England Curator)Tag missense tag was added to gene: APOC2.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: apoc2 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APOC2 were set to Amyloidosis; Hyperlipoproteinemia, type Ib 207750
Set publications
Sarah Leigh (Genomics England Curator)Publications for APOC2 were set to 27840752; 27297947
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Alice Gardham (Genomics England)APOC2 was added to Periodic fever syndromespanel. Sources: Literature
Created
Alice Gardham (Genomics England)APOC2 was created by agardham