Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Acute rhabdomyolysis v0.6 FKRP Arina Puzriakova reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Acute rhabdomyolysis v0.2 FKRP Arina Puzriakova gene: FKRP was added
gene: FKRP was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to 26810512; 21220724; 25929793; 22029705; 32978841
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155