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Red cell disorders v0.33 | CD59 |
Zornitza Stark changed review comment from: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Intermittent episodes of haemolysis.; to: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Intermittent episodes of haemolysis. More than 5 unrelated families reported. |
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Red cell disorders v0.33 | CD59 | Zornitza Stark Marked gene: CD59 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.33 | CD59 | Zornitza Stark Gene: cd59 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.33 | CD59 | Zornitza Stark Phenotypes for gene: CD59 were changed from Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked to Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy, MIM# 612300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.32 | CD59 | Zornitza Stark reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24382084, 23149847; Phenotypes: Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.1 | CD59 |
Zornitza Stark Added phenotypes Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked for gene: CD59 Publications for gene CD59 were updated from 23149847; 1382994; 24382084 to 1382994; 24382084; 23149847 |
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Red cell disorders v0.0 | CD59 |
Zornitza Stark gene: CD59 was added gene: CD59 was added to Rare anaemia_GEL. Sources: NHS GMS,North West GLH,Yorkshire and North East GLH,Expert Review Green Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD59 were set to 23149847; 1382994; 24382084 Phenotypes for gene: CD59 were set to Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked |