| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible v1.47 | NT5C3A |
Ivone Leong Source NHS GMS was added to NT5C3A. Source London North GLH was added to NT5C3A. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | NT5C3A |
Ellen McDonagh gene: NT5C3A was added gene: NT5C3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 27604308 Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency, 266120; Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||