| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v1.23 | BTD | Zornitza Stark Tag treatable tag was added to gene: BTD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.100 | BTD | Bryony Thompson Marked gene: BTD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.100 | BTD | Bryony Thompson Gene: btd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.100 | BTD | Bryony Thompson Classified gene: BTD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.100 | BTD | Bryony Thompson Gene: btd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.99 | BTD |
Bryony Thompson gene: BTD was added gene: BTD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 7550325 Phenotypes for gene: BTD were set to Biotinidase deficiency MIM#253260; disorder of biotin metabolism Review for gene: BTD was set to GREEN gene: BTD was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Deficiency causes an inborn error of biotin metabolism. Sources: NHS GMS |
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