Genomics England
GMS Panels
Panels
Genes and Entities

RPS29

ribosomal protein S29
OMIM: 603633
PanelMode of inheritanceDetails
3 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia 13, 615909, Diamond-Blackfan anaemia
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: BM failure syndrome (typ AR), Diamond Blackfan Anemia, MDS, AML, Osteosarcoma, soft tissue sarcomas
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
615909 Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13, 615909