Genomics England
GMS Panels
Panels
Genes and Entities

SRP54

signal recognition particle 54
OMIM: 604857
PanelMode of inheritanceDetails
2 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neutropenia, severe congenital, 8, autosomal dominant, 618752
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
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