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| BabyScreen+ newborn screening v1.114 | CYP2R1 | Tommy Li Added phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 for gene: CYP2R1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1938 | CYP2R1 | Zornitza Stark Marked gene: CYP2R1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1938 | CYP2R1 | Zornitza Stark Gene: cyp2r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1938 | CYP2R1 |
Zornitza Stark Tag treatable tag was added to gene: CYP2R1. Tag endocrine tag was added to gene: CYP2R1. |
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| BabyScreen+ newborn screening v0.1938 | CYP2R1 | Zornitza Stark Classified gene: CYP2R1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1938 | CYP2R1 | Zornitza Stark Gene: cyp2r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1937 | CYP2R1 |
Zornitza Stark gene: CYP2R1 was added gene: CYP2R1 was added to Baby Screen+ newborn screening. Sources: Expert Review 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 deficiency MIM#600081 Review for gene: CYP2R1 was set to GREEN Added comment: At least 6 unrelated families reported. Onset is generally in infancy. Good response to vitamin D (calcifediol (25_OH_D3). Confirmatory non-genetic testing: serum calcium, parathyroid hormone, 25-hydroxy vitamin D levels Sources: Expert Review |
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