Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IBMDx study v0.2 | RPS27 | vahid pazhakh reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: None; Publications: Publications (PMID: 25424902); Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
IBMDx study v0.0 | RPS27 |
Zornitza Stark gene: RPS27 was added gene: RPS27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPS27 was set to Unknown Phenotypes for gene: RPS27 were set to Diamond-Blackfan anemia 17, MIM# 617409 |