Genomics England
GMS Panels
Panels
Genes and Entities

RPL17

ribosomal protein L17
OMIM: 603661
PanelMode of inheritanceDetails
2 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 22, OMIM:621262, Diamond-Blackfan anemia 22, MONDO:0979244
Green
in Rare anaemia
R-numbers: R92
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 22, OMIM:621262, Diamond-Blackfan anemia 22, MONDO:0979244