Familial Meniere Disease
Gene: WFS1
WFS1 (wolframin ER transmembrane glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Added watchlist tag as new data about this gene may be available soon.Created: 22 Mar 2018, 2:51 p.m.
Comment on list classification: Jose Antonio Lopez-Escamez confirmed that he has unpublished data on 2 different novel variants that have been found in 6 non-related individuals with sporadic Meniere disease (one variant in 2 individuals, the other in 4 individuals). These variants have to be validated. Rating this gene as red, but with a watchlist tag, until more evidence is available.Created: 22 Mar 2018, 2:34 p.m.
Comment on mode of inheritance: MOI added following reviewer commentCreated: 21 Mar 2018, 3:42 p.m.
Jose Antonio Lopez-Escamez (Center for Genomic GENyO)
Several sporadic patients are carriers of rara variants in this gene (unpublished findings)Created: 5 Mar 2018, 3:55 p.m.
Mode of inheritance
Unknown
Phenotypes
Sporadic Meniere disease
Variants in this GENE are reported as part of current diagnostic practice
Maria Bitner-Glindzicz (UCL)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Sporadic Meniere disease
- Tags
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Monogenic nephrogenic diabetes insipidus
- Optic neuropathy
- Familial diabetes
- Adult onset neurodegenerative disorder
- Neonatal diabetes
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Structural eye disease
- Monogenic hearing loss
- Hereditary ataxia
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
27 Mar 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)External reviews collated. Internal clinical input. Ready for version 1.
22 Mar 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
21 Mar 2018, Gel status: 1
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for WFS1 was changed from to Unknown
21 Mar 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for WFS1 were set to Sporadic Meniere disease
17 Jan 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)WFS1 was added to Familial Meniere Disease panel. Sources: Literature
17 Jan 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)WFS1 was created by Eleanor Williams