| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.48 | ALPL | Bryony Thompson Marked gene: ALPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.48 | ALPL | Bryony Thompson Gene: alpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.48 | ALPL | Bryony Thompson Classified gene: ALPL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.48 | ALPL | Bryony Thompson Gene: alpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.47 | ALPL |
Bryony Thompson gene: ALPL was added gene: ALPL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALPL were set to 3174660; 1409720 Phenotypes for gene: ALPL were set to Hypophosphatasia; disorder of bone metabolism Review for gene: ALPL was set to GREEN gene: ALPL was marked as current diagnostic Added comment: Inborn error of bone metabolism. Well-established gene-disease association (see OMIM entry). Sources: NHS GMS |
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