SRP54

signal recognition particle 54
OMIM: 604857
PanelMode of inheritanceDetails
2 panels
R-numbers: R91
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neutropenia, severe congenital, 8, autosomal dominant, 618752
R-numbers: R15
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital defects of phagocyte number or function, Schwachman Diamond features, Neutropenia, severe congenital, 8, autosomal dominant, 618752