| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | PHGDH | Achchuthan Shanmugasundram reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 11055895, 11034457, 24836451, 19235232; Phenotypes: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, OMIM:601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PHGDH | Achchuthan Shanmugasundram Publications for gene: PHGDH were updated from 19235232; 11055895; 11034457 to 11034457; 11055895; 24836451; 19235232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PHGDH | Rebecca Foulger reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PHGDH |
Rebecca Foulger Added phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815 for gene: PHGDH Publications for gene PHGDH were changed from 24836451 to 19235232; 11055895; 11034457 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PHGDH |
Rebecca Foulger gene: PHGDH was added gene: PHGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 24836451 Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME 256520 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||