Home > Gene Browser > PELI3

PELI3

Synonyms
-
External resources
Summary
The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.

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
20
Likely pathogenic
0
VUS
1,648
Likely benign
23
Benign
0

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on PELI3 gene are displayed below. The following symptoms were found in patients with a variant in PELI3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
68.4%
Abnormality of head or neck
57.9%
Abnormality of the eye
36.8%
Growth abnormality
36.8%
Abnormality of the musculoskeletal system
31.6%
Abnormality of the integument
26.3%
Abnormality of limbs
15.8%
Abnormality of the cardiovascular system
15.8%
Abnormality of prenatal development or birth
10.5%
Abnormality of the digestive system
10.5%
Abnormality of the ear
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of metabolism homeostasis
5.3%
Abnormality of the breast
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the voice
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
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.