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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
7
Likely pathogenic
1
VUS
5,320
Likely benign
3,827
Benign
112

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on TKT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
50%
Abnormality of the nervous system
50%
Abnormality of head or neck
37.5%
Abnormality of the eye
37.5%
Abnormality of the immune system
37.5%
Abnormality of limbs
25%
Abnormality of the integument
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the respiratory system
25%
Growth abnormality
25%
Abnormality of the genitourinary system
12.5%
Neoplasm
12.5%
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 digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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