| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible v1.47 | CD320 |
Ivone Leong Source NHS GMS was added to CD320. Source London North GLH was added to CD320. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | CD320 |
Ellen McDonagh gene: CD320 was added gene: CD320 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CD320 was set to Unknown Publications for gene: CD320 were set to 27604308; 20524213 Phenotypes for gene: CD320 were set to Methylmalonic aciduria due to transcobalamin receptor defect |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||