Familial Meniere Disease

Gene: WFS1

Red List (low evidence)

WFS1 (wolframin ER transmembrane glycoprotein)
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Comment on list classification: Jose Antonio Lopez-Escamez confirmed that he has unpublished data on 2 different novel variants that have been found in 6 non-related individuals with sporadic Meniere disease (one variant in 2 individuals, the other in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 comment
Created: 21 Mar 2018, 3:42 p.m.

Jose Antonio Lopez-Escamez (Center for Genomic GENyO)

Green List (high evidence)

Several sporadic patients are carriers of rara variants in this gene (unpublished findings)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)

Red List (low evidence)

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