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 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014
Green
in Monitoring for G(M)CSF escape variants
R-numbers: R338
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014, autosomal recessive severe congenital neutropenia due to CSF3R deficiency, MONDO:0014865
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.91
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014, Congenital defects of phagocyte number or function