| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.132 | DPYS | Bryony Thompson Marked gene: DPYS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.132 | DPYS | Bryony Thompson Gene: dpys has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.132 | DPYS | Bryony Thompson Classified gene: DPYS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.132 | DPYS | Bryony Thompson Gene: dpys has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.131 | DPYS | Bryony Thompson edited their review of gene: DPYS: Changed publications: 9718352 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.131 | DPYS |
Bryony Thompson gene: DPYS was added gene: DPYS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYS were set to Dihydropyrimidinuria MIM#222748; Disorders of pyrimidine metabolism Review for gene: DPYS was set to GREEN gene: DPYS was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Dihydropyrimidinuria 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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