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TKT

Synonyms
HEL-S-48, HEL107, SDDHD, TK, TKT1
External resources
Summary
This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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
4
Likely pathogenic
0
VUS
1,904
Likely benign
3,253
Benign
86

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on TKT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Abnormality of limbs
50%
Abnormality of the eye
50%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
25%
Abnormality of the genitourinary system
25%
Abnormality of the immune system
25%
Abnormality of the integument
25%
Growth abnormality
25%
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 digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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