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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

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
42
Likely pathogenic
2
VUS
13,736
Likely benign
11,007
Benign
4,899

Patient phenotypes

Proportions of phenotypes among 43 patients carrying pathogenic or likely pathogenic variants on SZT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.6%
Abnormality of the eye
27.9%
Abnormality of the musculoskeletal system
20.9%
Abnormality of head or neck
14%
Abnormality of the cardiovascular system
11.6%
Abnormality of the ear
11.6%
Growth abnormality
9.3%
Abnormality of the genitourinary system
7%
Abnormality of limbs
4.7%
Abnormality of the digestive system
4.7%
Abnormality of the endocrine system
4.7%
Abnormality of the integument
4.7%
Abnormality of the respiratory system
4.7%
Abnormality of blood and blood-forming tissues
2.3%
Abnormality of prenatal development or birth
2.3%
Abnormality of the immune system
2.3%
Neoplasm
2.3%
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%

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