| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Calcium and Phosphate disorders v1.7 | INPPL1 | Bryony Thompson Marked gene: INPPL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.7 | INPPL1 | Bryony Thompson Gene: inppl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.7 | INPPL1 | Bryony Thompson Classified gene: INPPL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.7 | INPPL1 | Bryony Thompson Gene: inppl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.6 | INPPL1 |
Bryony Thompson gene: INPPL1 was added gene: INPPL1 was added to Calcium and Phosphate disorders. Sources: Other Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPPL1 were set to 23273567 Phenotypes for gene: INPPL1 were set to opsismodysplasia MONDO:0009785 Review for gene: INPPL1 was set to GREEN gene: INPPL1 was marked as current diagnostic Added comment: Hypophosphataemia can be a feature of the condition and has been reported in at least 5 individuals with chet/homozygous variants from 4 families. Sources: Other |
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