| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.272 | CYP2R1 | Eleanor Williams Classified gene: CYP2R1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.272 | CYP2R1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Hypophosphataemia or rickets panel (panel ID:482, version 2.1) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.272 | CYP2R1 | Eleanor Williams Gene: cyp2r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.271 | CYP2R1 |
Eleanor Williams gene: CYP2R1 was added gene: CYP2R1 was added to Skeletal dysplasia. Sources: Other Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2R1 were set to 22855339; 15128933; 28548312; 25942481 Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation, 600081 Review for gene: CYP2R1 was set to GREEN Added comment: Adding genes that are green on the Hypophosphataemia or rickets panel Sources: Other |
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