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SLC25A15

Synonyms
D13S327, HHH, LNC-HC, ORC1, ORNT1
External resources
Summary
This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.

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
9
Likely pathogenic
4
VUS
1,954
Likely benign
2,294
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on SLC25A15 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
69.2%
Growth abnormality
30.8%
Abnormality of head or neck
23.1%
Abnormality of the cardiovascular system
23.1%
Abnormality of the digestive system
23.1%
Abnormality of the ear
23.1%
Abnormality of the eye
23.1%
Abnormality of the musculoskeletal system
23.1%
Abnormality of the endocrine system
15.4%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the immune system
7.7%
Abnormality of the integument
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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