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SLC2A8

Synonyms
GLUT8, GLUTX1
External resources
Summary
This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene.

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
119
Likely pathogenic
135
VUS
2,811
Likely benign
41
Benign
0

Patient Phenotypes

Proportions of phenotypes among 252 patients carrying pathogenic or likely pathogenic variants on SLC2A8 gene are displayed below. The following symptoms were found in patients with a variant in SLC2A8. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.3%
Abnormality of the musculoskeletal system
26.2%
Abnormality of the cardiovascular system
21%
Abnormality of head or neck
19.4%
Growth abnormality
17.9%
Abnormality of the eye
17.5%
Abnormality of the ear
16.3%
Abnormality of metabolism homeostasis
8.7%
Abnormality of the genitourinary system
8.7%
Abnormality of the digestive system
7.1%
Abnormality of the integument
6.3%
Abnormality of the immune system
6%
Abnormality of the endocrine system
5.6%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of limbs
4%
Abnormality of the respiratory system
3.2%
Abnormality of prenatal development or birth
2.4%
Constitutional symptom
2%
Abnormality of the voice
1.6%
Neoplasm
1.6%
Abnormality of the breast
0.8%
Abnormal cellular phenotype
0.4%
Abnormality of the thoracic cavity
0%

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