Genomics England
GMS Panels
Panels
Genes and Entities

RPL27

ribosomal protein L27
OMIM: 607526
PanelMode of inheritanceDetails
2 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Diamond-Blackfan anemia 16, OMIM:617408, Diamond-Blackfan anemia 16, MONDO:0044309
Green
in Rare anaemia
R-numbers: R92
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 16, 617408, Diamond-Blackfan anemia