| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Amyloidosis v1.1 | APOC2 | Zornitza Stark Marked gene: APOC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v1.1 | APOC2 | Zornitza Stark Gene: apoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v1.1 | APOC2 | Zornitza Stark Classified gene: APOC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v1.1 | APOC2 | Zornitza Stark Gene: apoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v1.0 | APOC2 |
Sangavi Sivagnanasundram gene: APOC2 was added gene: APOC2 was added to Amyloidosis. Sources: Literature Mode of inheritance for gene: APOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOC2 were set to 39547356; 27297947; 27840752; 30686043; 30197986 Phenotypes for gene: APOC2 were set to APOC2-related amyloidosis, MONDO:0019065 Review for gene: APOC2 was set to AMBER Added comment: Two missense variants appear to be the only two reported heterozygous variants in multiple affected individuals with amyloidosis (PMID: 39547356). Unclear whether these variants are common pathogenic variants. Further functional evidence is required to upgrade the gene to Green. PMID: 27297947 (reports the same individual in PMID: 27840752) 61F with history hypertension and hypothyroidism and recent diagnosis of renal amyloidosis confirmed via biopsy Heterozygous missense variant (E69V - absent in gnomAD v4.1) identified on sequencing which was identified in unaffected son Proteomic analysis identified 7 other elderly probands with renal amyloidosis, aggregation of Apolipoprotein-CII amyloid deposits (genetic testing wasn't conducted on them) PMID: 30686043 80M (from Greece)with deteriorated renal function. Biopsy of abdominal fat stained with Congo red was positive for amyloid. Heterozygous p.Lys41Thr was identified in proband and unaffected son. The variant is present in gnomADv4.1 - NFE FAF - 0.1020% PMID: 30197986 5 unrelated patients with AApoCII p.Lys41Thr amyloidosis. Affected individuals presented with a range of symptoms including proteinuria and increased serum creatinine. All 5 individuals were >60yrs supporting late age of onset. Sources: Literature |
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