Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital disorders of glycosylation v1.20 | CAD | Konstantinos Varvagiannis reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: None; Publications: 28007989; Phenotypes: Epileptic encephalopathy, early infantile, 50 - MIM 616457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v1.20 | CAD | Konstantinos Varvagiannis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v1.20 | CAD | Konstantinos Varvagiannis reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: None; Publications: 28007989; Phenotypes: Epileptic encephalopathy, early infantile, 50 - MIM 616457; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | CAD | Daniel Ungar reviewed CAD |