GENE REFERENCE / HGNC:2433

CSF1R

colony stimulating factor 1 receptor

protein-coding gene5q32Gene information

What does this gene do?

The CSF1R gene provides instructions for making a protein called the colony stimulating factor 1 receptor (CSF-1 receptor). This protein is found in the outer membrane of certain cell types. When a specific protein called colony stimulating factor 1 attaches (binds) to it, the receptor turns on (activates) a series of proteins inside the cell that are part of multiple signaling pathways. The signaling pathways stimulated by the CSF-1 receptor control many important cellular processes such as cell growth and division (proliferation) and maturation of cells to take on specific functions (differentiation).

In the brain, the CSF-1 receptor is abundant in the membrane of specialized cells called glial cells. These cells protect and maintain nerve cells (neurons). The CSF-1 receptor is thought to be involved in the proliferation and differentiation of glial cells, but its exact role in the brain is unclear.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2012-12.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
brain abnormalities, neurodegeneration, and dysosteosclerosisMONDO:0032772 · Evaluated 2026-08-13	Autosomal recessive	DefinitiveLeukodystrophy and Leukoencephalopathy Gene Curation Expert Panel
leukoencephalopathy, diffuse hereditary, with spheroids 1MONDO:0800027 · Evaluated 2025-12-19	Autosomal dominant	DefinitiveLeukodystrophy and Leukoencephalopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,078
Submissions for variants in or overlapping this gene: 1,707
Submissions explicitly reporting this gene: 1,658
Alleles reported pathogenic / likely pathogenic: 88
VariationIDs with uncertain significance: 422
VariationIDs with conflicting classifications: 69

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CSF1R?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 88 alleles in CSF1R reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CSF1R.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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