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| Hereditary systemic amyloidosis v0.18 | APOC2 | Eleanor Williams commented on gene: APOC2: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.18 | APOC2 | Eleanor Williams commented on gene: APOC2: Added the missense tag | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.18 | APOC2 | Eleanor Williams Tag missense tag was added to gene: APOC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | APOC2 |
Eleanor Williams changed review comment from: 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. Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients.; to: 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. |
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| Hereditary systemic amyloidosis v0.7 | APOC2 |
Eleanor Williams changed review comment from: Not associated with a relevant phenotype 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. Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients.; to: 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. Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients. |
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| Hereditary systemic amyloidosis v0.7 | APOC2 |
Eleanor Williams commented on gene: APOC2: Not associated with a relevant phenotype 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. Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients. |
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| Hereditary systemic amyloidosis v0.4 | APOC2 | Eleanor Williams reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30197986, 27297947; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.3 | APOC2 |
Eleanor Williams 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 |
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