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  3. CSF3R
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Monitoring for G(M)CSF escape mutations

Gene: CSF3R

Green List (high evidence)
CSF3R (colony stimulating factor 3 receptor)
EnsemblGeneIds (GRCh38): ENSG00000119535
EnsemblGeneIds (GRCh37): ENSG00000119535
OMIM: 138971, Gene2Phenotype
CSF3R is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #617014) and the OMIM record was last accessed on 20 December 2025.
Created: 20 Dec 2025, 8:41 p.m. | Last Modified: 20 Dec 2025, 8:41 p.m.
Panel Version: 1.2
CSF3R has been added to the panel for R338 Monitoring for G(M)CSF escape mutations with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 2:31 p.m. | Last Modified: 30 Jun 2023, 2:31 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 2:31 p.m.
Last Modified: 30 Jun 2023, 2:31 p.m.
Panel version: 0.1

Details

Mode of Inheritance
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
OMIM
138971
Clinvar variants
Variants in CSF3R
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CSF3R were changed from to Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014; autosomal recessive severe congenital neutropenia due to CSF3R deficiency, MONDO:0014865

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CSF3R was added gene: CSF3R was added to Monitoring for G(M)CSF escape mutations. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CSF3R was set to BIALLELIC, autosomal or pseudoautosomal