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| DDG2P v3.12 | PGK1 | Achchuthan Shanmugasundram reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16567715, 9512313, 1586722, 8673469, 1547346, 6933565, 16740138, 19157875, 9744480, 6941312; Phenotypes: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OMIM:300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PGK1 | Achchuthan Shanmugasundram Publications for gene: PGK1 were updated from 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 to 16567715; 9512313; 1586722; 8673469; 1547346; 6933565; 16740138; 19157875; 9744480; 6941312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PGK1 | Rebecca Foulger reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PGK1 |
Rebecca Foulger gene: PGK1 was added gene: PGK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653 |
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