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SLC25A2

Synonyms
ORC2, ORNT2
External resources
Summary
This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5.

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
13
Likely pathogenic
101
VUS
2,058
Likely benign
394
Benign
0

Patient Phenotypes

Proportions of phenotypes among 114 patients carrying pathogenic or likely pathogenic variants on SLC25A2 gene are displayed below. The following symptoms were found in patients with a variant in SLC25A2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.2%
Abnormality of the eye
29.8%
Abnormality of the musculoskeletal system
23.7%
Abnormality of head or neck
14%
Abnormality of the cardiovascular system
11.4%
Abnormality of the digestive system
11.4%
Abnormality of metabolism homeostasis
8.8%
Growth abnormality
7%
Abnormality of the immune system
6.1%
Abnormality of the ear
5.3%
Abnormality of the integument
5.3%
Abnormality of blood and blood forming tissues
4.4%
Abnormality of limbs
3.5%
Abnormality of the respiratory system
3.5%
Abnormal cellular phenotype
2.6%
Abnormality of the endocrine system
2.6%
Constitutional symptom
2.6%
Neoplasm
2.6%
Abnormality of the genitourinary system
1.8%
Abnormality of the voice
1.8%
Abnormality of prenatal development or birth
0.9%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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