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THEG

Synonyms
CT56, THEG1
External resources
Summary
This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. 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
35
Likely pathogenic
0
VUS
11,364
Likely benign
1,986
Benign
0

Patient phenotypes

Proportions of phenotypes among 35 patients carring pathogenic or likely pathogenic variants on THEG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the musculoskeletal system
48.6%
Abnormality of head or neck
42.9%
Growth abnormality
31.4%
Abnormality of the eye
28.6%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
20%
Abnormality of limbs
17.1%
Abnormality of the integument
14.3%
Abnormality of the digestive system
11.4%
Abnormality of the immune system
11.4%
Abnormality of the genitourinary system
5.7%
Abnormality of the respiratory system
5.7%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the endocrine system
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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