Date Panel Item Activity
3 actions
Hereditary systemic amyloidosis v0.7 APOA2 Eleanor Williams commented on gene: APOA2: Not associated with a relevant phenotype in OMIM but publications support association

4 cases reported:

PMID: 29270531 - Prokaeva et al 2017 - report a family with renal amyloidosis associated with a novel stop codon mutation in APOA2 and the apoA-II variant, 78Leuext21
PMID: 12787390 - Yazaki et al 2003 - a Caucasian man with progressive renal dysfunction found to have amyloidosis. DNA sequencing of the apoAII gene in the proband showed a T to C transition at the first position of the stop codon indicating replacement of the stop codon by l-arginine (Arg) at residue 78. DNA from other family members was not available.
PMID: 11401442 - Benson et al 2001 - report a family with hereditary renal amyloidosis. Sequence analysis of the apoAII gene of affected individuals showed heterozygosity for a single base substitution in the apoAII stop codon. The mutation results in extension of translation to the next in-frame stop codon 60 nucleotides downstream and is predicted to give a 21-residue C-terminal extension of the apoAII protein identical to that found in the amyloid.
PMID: 11703582 - Yazaki et al 2001 - Caucasian male with proteinuria and renal biopsy revealed amyloid deposition in glomeruli. DNA analysis revealed heterozygosity for a G to C transversion at the second position of the stop-codon of apoA-II gene, suggesting a stop to serine substitution at codon 78. Western blot analysis and amino acid sequence analysis of the patient's plasma apoA-II showed both normal apoA-II and variant apoA-II with a 21-amino acid residue extension at the C-terminus.
Hereditary systemic amyloidosis v0.4 APOA2 Eleanor Williams reviewed gene: APOA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29270531, 12787390, 11401442, 11703582; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary systemic amyloidosis v0.3 APOA2 Eleanor Williams gene: APOA2 was added
gene: APOA2 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA2 were set to 29270531; 11703582; 12787390; 11401442