Periodic fever syndromes
Gene: APOC2Added 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
Associated with Hyperlipoproteinemia, type Ib 207750 in OMIM, not in G2P. At least 13 variants reportedCreated: 28 Feb 2017, 9:33 a.m.
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
Phenotypes for gene: APOC2 were changed from Amyloidosis; Hyperlipoproteinemia, type Ib 207750 to Amyloidosis
Tag missense tag was added to gene: APOC2.
Gene: apoc2 has been classified as Green List (High Evidence).
Phenotypes for APOC2 were set to Amyloidosis; Hyperlipoproteinemia, type Ib 207750
Publications for APOC2 were set to 27840752; 27297947
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.
This gene has been classified as Amber List (Moderate Evidence).
APOC2 was added to Periodic fever syndromespanel. Sources: Literature
APOC2 was created by agardham