CSF3R

colony stimulating factor 3 receptor
OMIM: 138971, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CSF3R in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Congenital neutropaenia v1.22 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Phenotypes Congenital neutropenia Congenital defects of phagocyte number or function Neutropenia, severe congenital 7 N/A Neutropenia, severe congenital, 7, autosomal recessive, 617014
Green CSF3R in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Congenital neutropaenia v1.22 Phenotypes Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014 Congenital defects of phagocyte number or function
Green CSF3R in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Severe congenital neutropenia Neutropenia, severe congenital, 7, autosomal recessive 617014
Red CSF3R in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Acute myeloid leukaemia Hereditary neutrophilia Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014 Tags somatic
Green CSF3R in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014
Green CSF3R in Monitoring for G(M)CSF escape mutations Level 2: Haematology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014 autosomal recessive severe congenital neutropenia due to CSF3R deficiency, MONDO:0014865