Genomics England
GMS Panels
Panels
Genes and Entities

CSF3R

colony stimulating factor 3 receptor
OMIM: 138971
PanelMode of inheritanceDetails
3 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital, 7, autosomal recessive, 617014, 617014 Neutropenia, severe congenital, 7, 617014 Neutropenia, severe congenital, 7, autosomal recessive, Severe congenital neutropenia
Green
in Monitoring for G(M)CSF escape mutations
R-numbers: R338
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital, 7, autosomal recessive, 617014, Neutropenia, severe congenital 7, Congenital neutropenia, N/A, Congenital defects of phagocyte number or function