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TONSL

Synonyms
IKBR, NFKBIL2, SEMDSP
External resources
Summary
The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus.

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
14
Likely pathogenic
1
VUS
3,956
Likely benign
2,206
Benign
6

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on TONSL gene are displayed below. The following symptoms were found in patients with a variant in TONSL. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of the digestive system
20%
Abnormality of the genitourinary system
20%
Abnormality of the cardiovascular system
13.3%
Abnormality of the respiratory system
13.3%
Growth abnormality
13.3%
Abnormality of metabolism homeostasis
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the ear
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Constitutional symptom
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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