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WFS1

Synonyms
CTRCT41, WFRS, WFS, WFSL
External resources
Summary
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
16
Likely pathogenic
38
VUS
6,775
Likely benign
2,866
Benign
2,197

Patient phenotypes

Proportions of phenotypes among 54 patients carrying pathogenic or likely pathogenic variants on WFS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
25.9%
Abnormality of the nervous system
25.9%
Abnormality of the eye
22.2%
Abnormality of the musculoskeletal system
18.5%
Abnormality of head or neck
14.8%
Abnormality of the ear
14.8%
Abnormality of the digestive system
11.1%
Abnormality of blood and blood-forming tissues
9.3%
Abnormality of limbs
7.4%
Abnormality of the immune system
7.4%
Growth abnormality
7.4%
Abnormality of the genitourinary system
5.6%
Abnormality of the integument
5.6%
Abnormal cellular phenotype
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of prenatal development or birth
1.9%
Abnormality of the respiratory system
1.9%
Constitutional symptom
1.9%
Neoplasm
1.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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