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WFS1

wolframin ER transmembrane glycoprotein

HCNC Approved Symbol
WFS1 (HGNC:12762)
Genomic Coordinates
4:6,269,850 - 6,303,265 (4p16.1)
Synonyms
DIDMOAD, WFS, DFNA6, DFNA14, DFNA38
Disease Associations
This gene is associated with the following 5 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Cataract 41
116400AD
{Diabetes mellitus, noninsulin-dependent, association with}
125853AD
Deafness, autosomal dominant 6/14/38
600965AD
Wolfram syndrome 1
222300AR
Wolfram-like syndrome, autosomal dominant
614296AD

Diagnosed Cases

30Patients

In total, 30 patients were diagnosed with a variant in the WFS1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hearing loss
 9 (30.0%)
Diabetes mellitus
 6 (20.0%)
Optic atrophy
 5 (16.7%)
Deafness
 
3 (10.0%)
Dyschromatopsia
 
2 (6.7%)