| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v1.44 | DPYD | Bryony Thompson Tag pharmacogenomic tag was added to gene: DPYD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.130 | DPYD | Bryony Thompson Marked gene: DPYD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.130 | DPYD | Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.130 | DPYD | Bryony Thompson Classified gene: DPYD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.130 | DPYD | Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.129 | DPYD |
Bryony Thompson gene: DPYD was added gene: DPYD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYD were set to 8051923 Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism Review for gene: DPYD was set to GREEN gene: DPYD was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Dihydropyrimidine dehydrogenase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of pyrimidine metabolism. Sources: NHS GMS |
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