Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Likely inborn error of metabolism - targeted testing not possible v1.47 | AOX1 |
Ivone Leong Source NHS GMS was added to AOX1. Source London North GLH was added to AOX1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | AOX1 |
Ellen McDonagh gene: AOX1 was added gene: AOX1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AOX1 was set to Unknown Publications for gene: AOX1 were set to 27604308 Phenotypes for gene: AOX1 were set to Xanthinuria type II (Disorders of purine metabolism) |