| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.268 | NT5C3A | Bryony Thompson Marked gene: NT5C3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.268 | NT5C3A | Bryony Thompson Gene: nt5c3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.268 | NT5C3A | Bryony Thompson Classified gene: NT5C3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.268 | NT5C3A | Bryony Thompson Gene: nt5c3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.267 | NT5C3A |
Bryony Thompson gene: NT5C3A was added gene: NT5C3A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 11369620; 11369620 Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency MIM#266120; disorder of pyrimidine metabolism Review for gene: NT5C3A was set to GREEN gene: NT5C3A was marked as current diagnostic Added comment: Well-established gene-disease association(see OMIM entry). Hemolytic anemia due to UMPH1 deficiency is an inborn error of pyrimidine metabolism. Sources: NHS GMS |
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