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| Hereditary systemic amyloidosis v1.13 | GSN | Arina Puzriakova Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type 105120 to Amyloidosis, Finnish type, OMIM:105120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.18 | GSN | Eleanor Williams commented on gene: GSN: OMIM reports that Maury, 1993 (PMID: 8395367, abstract only accessed) reports that 2 2 sibs, the offspring of 2 affected parents, who were by DNA test homozygous for the mutation and showed unusually early onset and severity of the disease , thus the BIALLELIC mutations cause a more SEVERE disease form mode of inheritiance seems appropriate. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.16 | GSN | Eleanor Williams Phenotypes for gene: GSN were changed from 105120 to Amyloidosis, Finnish type 105120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | GSN |
Eleanor Williams commented on gene: GSN: Associated with Amyloidosis, Finnish type (#105120) in OMIM PMID: 25342098 - Rowczenio et al - report the clinical features in 10 patients with hereditary gelsolin (AGel) amyloidosis associated with the p.D214N mutation. Two patients, from the same kindred presented with proteinuria; eight subjects had a characteristic AGel amyloidosis phenotype including cranial neuropathy and/or corneal lattice dystrophy. PMID: 24601799 - Efebera et al 2014 - report a novel gelsolin variant in a 62-year-old man with nephrotic range proteinuria. DNA sequencing revealed the novel gelsolin mutation (c.633C > A) encoding p.N211K protein variant. 4 of 13 asymptomatic family members were found to be heterozygous for the p.N211K mutation, three of whom had proteinuria of varying degree including one who proceeded to renal biopsy and was confirmed to have renal amyloidosis. PMID: 22938848 - Sethi et al 2013 - report a 75-year-old woman who presented with progressive kidney failure. Kidney biopsy showed amyloidosis of undetermined type. Sequencing of the gelsolin gene revealed a previously undescribed sequence variant, a guanine to adenine substitution at nucleotide 580 of the coding sequence, corresponding to a predicted glycine to arginine mutation at amino acid 194. |
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| Hereditary systemic amyloidosis v0.4 | GSN | Eleanor Williams reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25342098, 24601799, 22938848; Phenotypes: 105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.3 | GSN |
Eleanor Williams gene: GSN was added gene: GSN was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GSN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GSN were set to 24601799; 25342098; 22938848 Phenotypes for gene: GSN were set to 105120 |
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