Home > Gene Browser > IRAK1

IRAK1

Synonyms
IRAK, pelle
External resources
Summary
This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced 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
11
Likely pathogenic
0
VUS
2,074
Likely benign
1,377
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on IRAK1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
36.4%
Abnormality of the musculoskeletal system
27.3%
Abnormality of the nervous system
27.3%
Abnormality of head or neck
18.2%
Abnormality of the eye
18.2%
Abnormality of the genitourinary system
18.2%
Abnormality of the immune system
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the endocrine system
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
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 integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes