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CSF2RB

Synonyms
CD131, CDw131, IL3RB, IL5RB, SMDP5, betaGMR
External resources
Summary
The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP).

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
45
Likely pathogenic
21
VUS
1,994
Likely benign
1,804
Benign
1,206

Patient phenotypes

Proportions of phenotypes among 66 patients carring pathogenic or likely pathogenic variants on CSF2RB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.4%
Abnormality of the eye
24.2%
Abnormality of head or neck
21.2%
Abnormality of the musculoskeletal system
19.7%
Abnormality of the cardiovascular system
18.2%
Abnormality of the genitourinary system
12.1%
Growth abnormality
10.6%
Abnormality of the digestive system
9.1%
Abnormality of the ear
9.1%
Abnormality of the integument
7.6%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of limbs
6.1%
Abnormality of the immune system
6.1%
Abnormality of the endocrine system
4.5%
Abnormality of prenatal development or birth
3%
Constitutional symptom
3%
Abnormality of the respiratory system
1.5%
Abnormality of the voice
1.5%
Neoplasm
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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