CSF1R - Gene browser

CSF1R

colony stimulating factor 1 receptor

HCNC Approved Symbol: CSF1R (HGNC:2433)
Genomic Coordinates: 5:150,053,295 - 150,113,365 (5q32)
Synonyms: C-FMS, CSFR, CD115, FMS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the CSF1R gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

06
Patient count

Leukoencephalopathy: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Cognitive impairment: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Leukodystrophy: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Cortical dysplasia: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Developmental regression: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)