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Red cell disorders v0.187 | XK | Zornitza Stark Marked gene: XK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.187 | XK | Zornitza Stark Gene: xk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.187 | XK | Zornitza Stark Phenotypes for gene: XK were changed from 300842 McLeod syndrome to McLeod syndrome with or without chronic granulomatous disease MIM# 300842; absence of red blood cell Kx antigen; weak expression of Kell red blood cell antigens; neuroacanthocytosis (peripheral and central nervous systems); cardiovascular abnormalities; myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.186 | XK | Zornitza Stark Publications for gene: XK were set to 17683354; 11761473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.55 | XK | Danielle Ariti reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8004674, 30128557, 30800707; Phenotypes: McLeod syndrome with or without chronic granulomatous disease MIM# 300842, absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, neuroacanthocytosis (peripheral and central nervous systems), cardiovascular abnormalities, myopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.1 | XK |
Zornitza Stark Added phenotypes 300842 McLeod syndrome for gene: XK Publications for gene XK were updated from 11761473; 17683354 to 17683354; 11761473 |
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Red cell disorders v0.0 | XK |
Zornitza Stark gene: XK was added gene: XK was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: XK were set to 11761473; 17683354 Phenotypes for gene: XK were set to 300842 McLeod syndrome |