Haematological malignancies cancer susceptibility
Gene: CSF3REnsemblGeneIds (GRCh38): ENSG00000119535
EnsemblGeneIds (GRCh37): ENSG00000119535
OMIM: 138971, Gene2Phenotype
CSF3R is in 6 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge). Rating Red as increased risk of AML due to CSF3R is associated with acquired rather than hereditary variants. One individual from PMID: 19620628 did develop a myelodysplastic syndrome, however this is not sufficient to promote this gene at present.Created: 2 Feb 2021, 6:29 p.m. | Last Modified: 2 Feb 2021, 6:29 p.m.
Panel Version: 2.15
Monoallelic variants are associated with a neutrophilia phenotype. Plo et al. 2009 (PMID:19620628) who found a 3-generation family segregating autosomal dominant neutrophilia, sequenced the CSF3R gene and identified a heterozygous activating variant (p.T617N). Of the 12 affecteds in this family, only one individual had a myelodysplastic syndrome. The p.T617N variant was also reported as an acquired activating alteration in 2/555 patients with AML (PMID:12203110)
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Biallelic variants give rise to severe congenital neutropenia (MIM# 617014), however, literature search did not reveal any evidence of malignancy (myelodysplasia or leukaemia) in any of the published cases (PMIDs: 24753537; 26324699)
Severe congenital neutropenia in general is associated with a high risk of progression to AML. CSF3R variants have been associated with this increased risk; however, these tend to be somatic rather than hereditary variants (PMID: 22371884; 23656643; 27270496; 29070147). As the Genomics England pipeline is currently not optimised for detection of such variants using PanelApp and these cases are not accounted for in this review.Created: 2 Feb 2021, 6:20 p.m. | Last Modified: 2 Feb 2021, 6:20 p.m.
Panel Version: 2.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acute myeloid leukaemia; Hereditary neutrophilia; Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014
Publications
Kiran Tawana (Addenbrooke's Hospital, Cambridge)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MDS; Myeloma; B-ALL
Publications
- PMID: 27939403
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Acute myeloid leukaemia
- Hereditary neutrophilia
- Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014
- Tags
- OMIM
- 138971
- Clinvar variants
- Variants in CSF3R
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: csf3r has been classified as Red List (Low Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CSF3R were changed from MDS; Myeloma; B-ALL to Acute myeloid leukaemia; Hereditary neutrophilia; Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CSF3R were set to PMID: 27939403
Added Tag
Arina Puzriakova (Genomics England Curator)Tag somatic tag was added to gene: CSF3R.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Kiran Tawana (Addenbrooke's Hospital, Cambridge)gene: CSF3R was added gene: CSF3R was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: CSF3R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSF3R were set to PMID: 27939403 Phenotypes for gene: CSF3R were set to MDS; Myeloma; B-ALL Penetrance for gene: CSF3R were set to unknown Review for gene: CSF3R was set to RED