| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.289 | PHGDH | Zornitza Stark Marked gene: PHGDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.289 | PHGDH | Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.289 | PHGDH | Zornitza Stark Classified gene: PHGDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.289 | PHGDH | Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.288 | PHGDH |
Zornitza Stark gene: PHGDH was added gene: PHGDH was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 24836451; 25152457; 11055895; 19235232 Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 Review for gene: PHGDH was set to GREEN Added comment: Well established gene-disease association, severity depends on amount of residual enzyme activity. Sources: Expert list |
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