WFS1 Chromosome 4
Wolframin ER transmembrane glycoprotein
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What This Gene Does
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. [provided by RefSeq, Mar 2009]
Associated Conditions (31)
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Wolfram syndrome 1
Monogenic diabetes
Type 2 diabetes mellitus
Cataract 41
Wolfram-like syndrome
Inborn genetic diseases
WFS1-related disorder
Meniere disease
Optic atrophy
Hearing impairment
Spastic ataxia
Autistic behavior
Rare genetic deafness
Lymphedema
Retinal dystrophy
Hereditary ataxia
Monogenic hearing loss
Autosomal dominant nonsyndromic hearing loss
+11 more conditions
Key Variants
RS1055393876
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders, Wolfram syndrome 1
Health Risk
RS1057524887
Conflicting classifications of pathogenicity
Monogenic diabetes, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
Health Risk
RS1057524890
Conflicting classifications of pathogenicity
Monogenic diabetes, Wolfram syndrome 1, Monogenic diabetes
Health Risk
RS111773340
Conflicting classifications of pathogenicity
Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
Health Risk
RS112598170
Conflicting classifications of pathogenicity
WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1
Health Risk
RS112871383
Conflicting classifications of pathogenicity
Monogenic diabetes, Wolfram syndrome 1, Inborn genetic diseases
Health Risk
RS112967046
Conflicting classifications of pathogenicity
Monogenic diabetes, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
Health Risk
RS113446173
Conflicting classifications of pathogenicity
Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41
Health Risk
RS113513950
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders, Wolfram syndrome 1
Health Risk
RS113651985
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
RS114152068
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders, Monogenic diabetes
Health Risk
RS121912618
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1, Cataract 41
Health Risk
All Variants (477)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS905909594 | Health Risk | Conflicting classifications of pathogenicity | WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1 |
| RS919707549 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders, Wolfram syndrome 1 |
| RS942793250 | Health Risk | Conflicting classifications of pathogenicity | Wolfram-like syndrome, Wolfram-like syndrome |
| RS954971844 | Health Risk | Conflicting classifications of pathogenicity | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS998539254 | Health Risk | Conflicting classifications of pathogenicity | Cataract 41, Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6 |
| RS1064797306 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1131691778 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6 |
| RS1170910466 | Health Risk | Likely pathogenic | Diabetes mellitus, Diabetes mellitus |
| RS1222900668 | Health Risk | Likely pathogenic | Diabetes mellitus, Diabetes mellitus |
| RS1275272268 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1309408215 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus |
| RS1310304264 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1386447227 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1402999203 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1430938532 | Health Risk | Likely pathogenic | — |
| RS1578609780 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS2109119524 | Health Risk | Likely pathogenic | — |
| RS2109125661 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS2109127192 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS2109127427 | Health Risk | Likely pathogenic | — |
| RS2109127534 | Health Risk | Likely pathogenic | — |
| RS2474181432 | Health Risk | Likely pathogenic | — |
| RS2474191991 | Health Risk | Likely pathogenic | — |
| RS2474192449 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS2474193195 | Health Risk | Likely pathogenic | — |
| RS2474194001 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS2474194177 | Health Risk | Likely pathogenic | WFS1-related disorder, WFS1-related disorder |
| RS2474194199 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6 |
| RS2474195328 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS2474195730 | Health Risk | Likely pathogenic | WFS1-related disorder, Monogenic hearing loss, WFS1-related disorder |
| RS28937891 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Type 2 diabetes mellitus, Autosomal dominant nonsyndromic hearing loss 6 |
| RS369062548 | Health Risk | Likely pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS373825245 | Health Risk | Likely pathogenic | — |
| RS398123066 | Health Risk | Likely pathogenic | Cataract 41, Cataract 41 |
| RS71530914 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS71530915 | Health Risk | Likely pathogenic | — |
| RS745761673 | Health Risk | Likely pathogenic | — |
| RS749886570 | Health Risk | Likely pathogenic | Cataract 41, Cataract 41 |
| RS754090711 | Health Risk | Likely pathogenic | — |
| RS754373473 | Health Risk | Likely pathogenic | — |
| RS759581954 | Health Risk | Likely pathogenic | — |
| RS773343292 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1, Wolfram syndrome 1 |
| RS774330485 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders, Wolfram syndrome 1 |
| RS774416127 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus |
| RS775303221 | Health Risk | Likely pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS876657675 | Health Risk | Likely pathogenic | Wolfram-like syndrome, Rare genetic deafness, Wolfram-like syndrome |
| RS931042621 | Health Risk | Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS753237278 | Health Risk | Likely pathogenic/Likely risk allele | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS797045075 | Health Risk | Likely pathogenic/Likely risk allele | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS104893881 | Health Risk | Likely risk allele | Wolfram syndrome 1, Wolfram syndrome 1, Wolfram syndrome 1 |