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TSEN2

Synonyms
PCH2B, SEN2, SEN2L
External resources
Summary
This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript 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
10
Likely pathogenic
0
VUS
2,230
Likely benign
4,806
Benign
2,781

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on TSEN2 gene are displayed below. The following symptoms were found in patients with a variant in TSEN2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.4%
Abnormality of the endocrine system
33.3%
Abnormality of head or neck
22.2%
Abnormality of the cardiovascular system
22.2%
Abnormality of the ear
22.2%
Abnormality of the integument
22.2%
Abnormality of the nervous system
22.2%
Growth abnormality
22.2%
Abnormality of limbs
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Abnormality of the musculoskeletal system
11.1%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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