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TNIK

Synonyms
MRT54
External resources
Summary
Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
24
Likely pathogenic
0
VUS
17,065
Likely benign
4,706
Benign
292

Patient Phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on TNIK gene are displayed below. The following symptoms were found in patients with a variant in TNIK. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
58.3%
Abnormality of the musculoskeletal system
54.2%
Abnormality of head or neck
37.5%
Abnormality of the eye
37.5%
Abnormality of limbs
33.3%
Growth abnormality
33.3%
Abnormality of the integument
20.8%
Abnormality of the ear
12.5%
Abnormality of metabolism homeostasis
4.2%
Abnormality of the breast
4.2%
Abnormality of the cardiovascular system
4.2%
Abnormality of the digestive system
4.2%
Abnormality of the endocrine system
4.2%
Abnormality of the immune system
4.2%
Abnormality of the respiratory system
4.2%
Neoplasm
4.2%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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