Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Acute rhabdomyolysis v0.6 PGK1 Arina Puzriakova reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Acute rhabdomyolysis v0.2 PGK1 Arina Puzriakova gene: PGK1 was added
gene: PGK1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS
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 19157875; 16567715; 1547346; 22348148
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, OMIM:300653