Checked that the variants are heterozygous in the two reported cases with amyloidosis (PMID: 30197986 and 27297947). Hyperlipoproteinemia, type Ib (#207750) is reported at autosomal recessive inheritance in OMIM.
Created: 8 Oct 2019, 12:29 p.m. | Last Modified: 8 Oct 2019, 12:29 p.m.
Panel Version: 0.18
Added the missense tag
Created: 26 Sep 2019, 2:20 p.m. | Last Modified: 26 Sep 2019, 2:20 p.m.
Panel Version: 0.18
Associated with Hyperlipoproteinemia, type Ib (#207750) in OMIM.
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.
PMID: 27297947 - Nasr et al 2017 - report an initial patient and then 7 others with kidney involvement and with Apo-CII-rich amyloid deposits. DNA sequencing of the APOC2 gene in the initial patient and one of her children detected a heterozygous c.206A→T transition, causing an E69V missense mutation. They also detected the mutant peptide in the proband's renal amyloid deposits.
PMID: 27840752 - Lohani et al 2016 - 61-year-old female presenting with renal failure and nephrotic syndrome. No sequencing but laser microdissection and liquid chromatography mass spectrometry detected high levels of apolipoprotein C-II.
Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients.
Created: 13 Aug 2019, 12:40 p.m. | Last Modified: 13 Aug 2019, 12:52 p.m.
Panel Version: 0.7
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted: APOC2;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. Other Comments: Already on the Periodic Fever Syndrome App, but evidence is amber
Created: 2 Feb 2019, 3:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Tag missense tag was added to gene: APOC2.
gene: APOC2 was added gene: APOC2 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOC2 were set to 30197986; 27297947