Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CSF3

CSF3 (colony stimulating factor 3)
EnsemblGeneIds (GRCh38): ENSG00000108342
EnsemblGeneIds (GRCh37): ENSG00000108342
OMIM: 138970, Gene2Phenotype
CSF3 is in 1 panel

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

4 patients from 3 families, biallelic p.(Gln150Ter) and p.(Gln175Ter), with severe congenital neutropenia due to CSF3 (G-CSF) loss-of-function, confirmed by NMD in patient fibroblasts. PMIDs 37612131;42358053.
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

OMIM

138970

Clinvar variants

Variants in CSF3

Penetrance

None

Panels with this gene

Primary immunodeficiency or monogenic inflammatory bowel disease

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CSF3 was added gene: CSF3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: CSF3 was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: CSF3