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Red cell disorders v0.137 | PGK1 | Zornitza Stark Marked gene: PGK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.137 | PGK1 | Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.137 | PGK1 | Zornitza Stark Phenotypes for gene: PGK1 were changed from 300653 Phosphoglycerate kinase 1 deficiency to Phosphoglycerate kinase 1 deficiency MIM# 300653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.136 | PGK1 | Zornitza Stark Publications for gene: PGK1 were set to 16740138; 6412025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.135 | PGK1 | Zornitza Stark Classified gene: PGK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.135 | PGK1 | Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.128 | PGK1 | Danielle Ariti reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28580215, 20151463; Phenotypes: Phosphoglycerate kinase 1 deficiency MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red cell disorders v0.1 | PGK1 |
Zornitza Stark Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1 Publications for gene PGK1 were updated from 6412025; 16740138 to 16740138; 6412025 |
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Red cell disorders v0.0 | PGK1 |
Zornitza Stark gene: PGK1 was added gene: PGK1 was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Amber Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 6412025; 16740138 Phenotypes for gene: PGK1 were set to 300653 Phosphoglycerate kinase 1 deficiency |