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| Hypophosphataemia or rickets v0.34 | CYP2R1 | Ivone Leong Marked gene: CYP2R1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.34 | CYP2R1 | Ivone Leong Gene: cyp2r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.34 | CYP2R1 | Ivone Leong commented on gene: CYP2R1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.22 | CYP2R1 | Ivone Leong Classified gene: CYP2R1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.22 | CYP2R1 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on previous comment. CYP2R1 is also confirmed as associated with Rickets due to defect in vitamin D 25-hydroxylation on OMIM but no phenotypes are listed for it on Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.22 | CYP2R1 | Ivone Leong Gene: cyp2r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.21 | CYP2R1 | Ivone Leong Publications for gene: CYP2R1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.9 | CYP2R1 | Ivone Leong Mode of inheritance for gene: CYP2R1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.8 | CYP2R1 | Ivone Leong reviewed gene: CYP2R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22855339, 15128933, 28548312, 25942481; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.1 | CYP2R1 |
Ivone Leong gene: CYP2R1 was added gene: CYP2R1 was added to Hypophosphataemia or rickets. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation (600081) |
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