| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v1.23 | GALE | Zornitza Stark Tag treatable tag was added to gene: GALE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.145 | GALE | Bryony Thompson Marked gene: GALE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.145 | GALE | Bryony Thompson Gene: gale has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.145 | GALE | Bryony Thompson Classified gene: GALE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.145 | GALE | Bryony Thompson Gene: gale has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.144 | GALE |
Bryony Thompson gene: GALE was added gene: GALE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALE were set to 27604308; 9700591 Phenotypes for gene: GALE were set to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism Review for gene: GALE was set to GREEN gene: GALE was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). GALE deficiency is an inborn error of galactose metabolism. Sources: NHS GMS |
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