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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
4
VUS
3,416
Likely benign
3,622
Benign
2,428

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on CSF2RB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
25%
Abnormality of the digestive system
25%
Abnormality of the ear
25%
Abnormality of the eye
25%
Abnormality of the nervous system
25%
Abnormality of the respiratory system
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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