| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypophosphataemia or rickets v0.6 | CYP2R1 | Bryony Thompson Marked gene: CYP2R1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.6 | CYP2R1 | Bryony Thompson Gene: cyp2r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.6 | CYP2R1 | Bryony Thompson Classified gene: CYP2R1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.6 | CYP2R1 | Bryony Thompson Gene: cyp2r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.5 | CYP2R1 |
Bryony Thompson gene: CYP2R1 was added gene: CYP2R1 was added to Hypophosphataemic Rickets. Sources: Expert list Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2R1 were set to 15128933; 28548312 Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation MIM#600081 Review for gene: CYP2R1 was set to GREEN gene: CYP2R1 was marked as current diagnostic Added comment: At least 6 families with biallelic variants. Sources: Expert list |
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