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SLC17A5

Synonyms
AST, ISSD, NSD, SD, SIALIN, SIASD, SLD
External resources
Summary
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form.

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
6
Likely pathogenic
0
VUS
2,803
Likely benign
1,902
Benign
2,420

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on SLC17A5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
33.3%
Abnormality of the nervous system
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the ear
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the integument
16.7%
Growth abnormality
16.7%
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 digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the immune system
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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