| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Calcium and Phosphate disorders v1.2 | SLC2A2 | Bryony Thompson Marked gene: SLC2A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.2 | SLC2A2 | Bryony Thompson Gene: slc2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.2 | SLC2A2 | Bryony Thompson Classified gene: SLC2A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.2 | SLC2A2 | Bryony Thompson Gene: slc2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.1 | SLC2A2 |
Bryony Thompson gene: SLC2A2 was added gene: SLC2A2 was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 35738466 Phenotypes for gene: SLC2A2 were set to glycogen storage disease due to GLUT2 deficiency MONDO:0009216 Review for gene: SLC2A2 was set to GREEN gene: SLC2A2 was marked as current diagnostic Added comment: Hypophosphataemic rickets can be a feature of the condition. PMID: 35738466 - 4 homozygous & 1 Chet case with hypophosphataemic rickets and renal tubular dysfunction Sources: Literature |
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