Genomics England
GMS Panels
Panels
Genes and Entities

RPS27

ribosomal protein S27
OMIM: 603702
PanelMode of inheritanceDetails
2 panels
Green
in Haematological malignancies cancer susceptibility
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Diamond-Blackfan anemia 17, OMIM:617409, Class: BM failure syndrome (typ AR), MDS, AML, Osteosarcoma, soft tissue sarcomas
Green
in Rare anaemia
R-numbers: R92
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Diamond-Blackfan anemia 17, OMIM:617409