Genomics England
GMS Panels
Panels
Genes and Entities

RPL15

ribosomal protein L15
OMIM: 604174
PanelMode of inheritanceDetails
4 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 12, 615550
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 12, OMIM:615550, multiple congenital malformations, hydrops
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
?Diamond-Blackfan anemia 12, 615550, 615550 ?Diamond-Blackfan anemia 1, 615550 ?Diamond-Blackfan anaemia 12