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| Hereditary systemic amyloidosis v1.14 | FGA | Arina Puzriakova Phenotypes for gene: FGA were changed from Amyloidosis, familial visceral 105200 to Amyloidosis, familial visceral, OMIM:105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.15 | FGA | Eleanor Williams Phenotypes for gene: FGA were changed from 105200 to Amyloidosis, familial visceral 105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | FGA |
Eleanor Williams commented on gene: FGA: Associated with Amyloidosis, familial visceral (#105200) in OMIM. PMID: 29142973 - Rowczenio et al 2016 - 6 patients presented with proteinuria, hypertension, and/or lower limb edema. A novel FGA gene mutation was identified in each case: 2 frameshift mutations F521Sfs*27 and G519Efs*30 and 4 single base substitutions G555F, E526K, E524K, R554H. In 5 patients amyloid deposits were found only within the glomeruli. In 1 patient light-chain amyloid deposits were found. PMID: 23551149 - Haidinger et al 2013 - large Spanish family with chronic kidney disease with late-onset gross proteinuria. Renal biopsies from 2 members revealed almost complete obliteration of the mesangial glomerular architecture, although kidney function was only moderately impaired. In these 2 living members, they identified the AFib R554L mutation. PMID: 19073821 - Gillmore et al 2009 - describe 71 patients with fibrinogen amyloidosis, who were prospectively studied at the UK National Amyloidosis Centre. Direct sequencing of the FGA gene showed that 64 patients were heterozygous for the previously reported single base substitution that altered the codon at position 526 of the mature protein from that for glutamic acid to valine. 2 English patients were heterozygous for the previously reported fibrinogen mutation encoding a single base substitution that altered the codon at position 554 from arginine to leucine. 4 novel amyloidogenic fibrinogen mutations were discovered in Chinese, German and Afro-Caribbean patients. |
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| Hereditary systemic amyloidosis v0.4 | FGA | Eleanor Williams reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 29142973, 23551149, 19073821; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.3 | FGA |
Eleanor Williams gene: FGA was added gene: FGA was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGA were set to 19073821; 29142973; 23551149 Phenotypes for gene: FGA were set to 105200 |
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