TSR2

TSR2, ribosome maturation factor
OMIM: 300945
PanelMode of inheritanceDetails
1 panel
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Class: BM failure syndrome (typ AR), Diamond Blackfan Anemia, MDS, AML, Leukemia risk not well defined, Osteosarcoma, soft tissue sarcomas