| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.149 | GALM | Bryony Thompson Marked gene: GALM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.149 | GALM | Bryony Thompson Gene: galm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.149 | GALM | Bryony Thompson Classified gene: GALM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.149 | GALM | Bryony Thompson Gene: galm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.148 | GALM |
Bryony Thompson gene: GALM was added gene: GALM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALM were set to 30451973; 30910422 Phenotypes for gene: GALM were set to Galactosemia IV MIM#618881; Disorders of galactose metabolism Review for gene: GALM was set to GREEN gene: GALM was marked as current diagnostic Added comment: 8 unrelated cases with galactosaemia and supporting in vitro assays. GALM deficiency is an inborn error of galactose metabolism. Sources: NHS GMS |
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