Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Glycogen storage disease v0.3 | PRKAG2 | Carol Hardy reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease of heart, lethal congenital 261740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen storage disease v0.2 | PRKAG2 |
Ivone Leong gene: PRKAG2 was added gene: PRKAG2 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAG2 were set to Glycogen storage disease of heart, lethal congenital 261740 |