Home > Gene Browser > WFS1
WFS1
- Synonyms
- CTRCT41, WFRS, WFS, WFSL
- External resources
- NCBI7466
- OMIM606201
- EnsemblENSG00000109501
- HGNCHGNC:12762
- 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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