Multi-organ autoimmune diabetes
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:12 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Sources
-
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Wolfram syndrome, 222300
- Deafness, autosomal dominant 6/14/38, 600965
- Wolfram-like syndrome, autosomal dominant, 614296
- {Diabetes mellitus, noninsulin-dependent, association with}, 125853
- Tags
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- Complete
- Panels with this gene
-
- Neonatal diabetes
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic nephrogenic diabetes insipidus
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- Optic neuropathy
- Structural eye disease
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Monogenic diabetes
- Possible mitochondrial disorder - nuclear genes
- Familial diabetes
- Multi-organ autoimmune diabetes
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- DDG2P
- Glaucoma (developmental)
- Familial Meniere Disease
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: WFS1.
25 Jul 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
22 Jul 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
17 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)WFS1 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen