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IRAK4

Synonyms
IMD67, IPD1, IRAK-4, NY-REN-64, REN64
External resources
Summary
This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene.

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
17
Likely pathogenic
0
VUS
2,260
Likely benign
2,555
Benign
197

Patient phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on IRAK4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.3%
Abnormality of the musculoskeletal system
23.5%
Abnormality of the cardiovascular system
17.6%
Abnormality of the genitourinary system
17.6%
Abnormality of the immune system
17.6%
Abnormality of the eye
11.8%
Abnormality of head or neck
5.9%
Abnormality of limbs
5.9%
Abnormality of the ear
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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