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TET2

Synonyms
IMD75, KIAA1546, MDS
External resources
Summary
The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two 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
11
Likely pathogenic
13
VUS
2,356
Likely benign
1,451
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on TET2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of head or neck
30%
Abnormality of the musculoskeletal system
30%
Abnormality of the cardiovascular system
20%
Growth abnormality
15%
Abnormality of limbs
10%
Abnormality of the eye
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of the digestive system
5%
Abnormality of the ear
5%
Abnormality of the integument
5%
Constitutional symptom
5%
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 endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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