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SZT2

Synonyms
C1orf84, DEE18, EIEE18, KIAA0467, KICS1, SZT2A, SZT2B
External resources
Summary
The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis.

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
33
Likely pathogenic
2
VUS
8,112
Likely benign
8,434
Benign
1,790

Patient phenotypes

Proportions of phenotypes among 34 patients carring pathogenic or likely pathogenic variants on SZT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.1%
Abnormality of the nervous system
35.3%
Abnormality of the musculoskeletal system
23.5%
Abnormality of head or neck
17.6%
Abnormality of the cardiovascular system
14.7%
Abnormality of the ear
11.8%
Growth abnormality
11.8%
Abnormality of the genitourinary system
5.9%
Abnormality of the integument
5.9%
Abnormality of the respiratory system
5.9%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of limbs
2.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the digestive system
2.9%
Abnormality of the endocrine system
2.9%
Abnormality of the immune 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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