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 |
|---|---|---|---|
| RS2474195676 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6 |
| RS2474195882 | Health Risk | Pathogenic | — |
| RS2474195922 | Health Risk | Pathogenic | — |
| RS2474195933 | Health Risk | Pathogenic | — |
| RS2474196259 | Health Risk | Pathogenic | — |
| RS2474197682 | Health Risk | Pathogenic | — |
| RS28937892 | Health Risk | Pathogenic | Wolfram syndrome 1, Wolfram-like syndrome, Cataract 41 |
| RS35789242 | Health Risk | Pathogenic | — |
| RS372114182 | Health Risk | Pathogenic | — |
| RS373146435 | Health Risk | Pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS377544135 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, Wolfram-like syndrome |
| RS397517196 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS71524374 | Health Risk | Pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS71524394 | Health Risk | Pathogenic | — |
| RS71530910 | Health Risk | Pathogenic | Inborn genetic diseases, Wolfram syndrome 1, Inborn genetic diseases |
| RS71530911 | Health Risk | Pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS71532864 | Health Risk | Pathogenic | Wolfram syndrome 1, Monogenic hearing loss, Wolfram-like syndrome |
| RS71539673 | Health Risk | Pathogenic | Wolfram-like syndrome, Wolfram-like syndrome |
| RS747658523 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, Wolfram syndrome 1 |
| RS760337383 | Health Risk | Pathogenic | WFS1-Related Spectrum Disorders, Wolfram syndrome 1, Wolfram-like syndrome |
| RS762467865 | Health Risk | Pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS763294076 | Health Risk | Pathogenic | — |
| RS763561068 | Health Risk | Pathogenic | — |
| RS763677869 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, Wolfram-like syndrome |
| RS772357412 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, Wolfram syndrome 1 |
| RS863224265 | Health Risk | Pathogenic | Rare genetic deafness, Wolfram syndrome 1, WFS1-Related Spectrum Disorders |
| RS104893883 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Inborn genetic diseases, Wolfram syndrome 1 |
| RS1064794257 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Optic atrophy, Wolfram syndrome 1 |
| RS1235562712 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1281745640 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1335076773 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, Wolfram-like syndrome |
| RS1335308693 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1362648752 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome, WFS1-Related Spectrum Disorders |
| RS1381011685 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1, Wolfram-like syndrome |
| RS138682654 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, WFS1-related disorder, Autosomal dominant nonsyndromic hearing loss 6 |
| RS1443751733 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, See cases, WFS1-Related Spectrum Disorders |
| RS145639028 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Optic atrophy, Wolfram syndrome 1 |
| RS147974629 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS148953711 | Health Risk | Pathogenic/Likely pathogenic | WFS1-related disorder, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus |
| RS150465110 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Optic atrophy, Wolfram syndrome 1 |
| RS1553879087 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1560419631 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, Wolfram-like syndrome |
| RS1560421457 | Health Risk | Pathogenic/Likely pathogenic | Cataract 41, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus |
| RS1560422383 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Cataract 41, Wolfram-like syndrome |
| RS1578612324 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |
| RS1730456165 | Health Risk | Pathogenic/Likely pathogenic | Cataract 41, Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus |
| RS199946797 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome, WFS1-Related Spectrum Disorders, Diabetes mellitus |
| RS201239579 | Health Risk | Pathogenic/Likely pathogenic | Wolfram-like syndrome, Wolfram syndrome 1, Cataract 41 |
| RS2109107823 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus, Cataract 41 |
| RS2109125846 | Health Risk | Pathogenic/Likely pathogenic | Wolfram syndrome 1, Wolfram syndrome 1 |