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TRMT44

Synonyms
C4orf23, METTL19, TRM44
External resources
Summary
The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively.

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
31
Likely pathogenic
26
VUS
7,257
Likely benign
1,055
Benign
0

Patient phenotypes

Proportions of phenotypes among 57 patients carring pathogenic or likely pathogenic variants on TRMT44 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.4%
Abnormality of the eye
35.1%
Abnormality of head or neck
26.3%
Abnormality of the musculoskeletal system
24.6%
Growth abnormality
17.5%
Abnormality of the ear
14%
Abnormality of the integument
12.3%
Abnormality of the cardiovascular system
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of limbs
7%
Abnormality of the digestive system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the endocrine system
3.5%
Abnormality of blood and blood-forming tissues
1.8%
Abnormality of the respiratory system
1.8%
Abnormality of the voice
1.8%
Neoplasm
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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