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SLC2A7

Synonyms
GLUT-7, GLUT7, hGLUT7
External resources
Summary
SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001

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
20
Likely pathogenic
24
VUS
2,414
Likely benign
350
Benign
0

Patient Phenotypes

Proportions of phenotypes among 44 patients carrying pathogenic or likely pathogenic variants on SLC2A7 gene are displayed below. The following symptoms were found in patients with a variant in SLC2A7. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.6%
Abnormality of the musculoskeletal system
34.1%
Abnormality of head or neck
29.5%
Abnormality of the eye
27.3%
Abnormality of the cardiovascular system
18.2%
Abnormality of the ear
15.9%
Abnormality of limbs
13.6%
Abnormality of the genitourinary system
11.4%
Abnormality of the integument
11.4%
Growth abnormality
11.4%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
9.1%
Abnormality of metabolism homeostasis
6.8%
Abnormality of blood and blood forming tissues
4.5%
Constitutional symptom
4.5%
Abnormality of the endocrine system
2.3%
Abnormality of the respiratory system
2.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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