| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Skeletal dysplasia v0.0 | CREB3L1 |
Zornitza Stark gene: CREB3L1 was added gene: CREB3L1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CREB3L1 were set to 25007323; 28817112; 29936144.; 30657919 Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI 616229 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||