Retinal disorders
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
1 review
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
wolfram syndrome - retina?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Intellectual disability
- Hereditary ataxia, adult onset
- Monogenic nephrogenic diabetes insipidus
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- DDG2P
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Ataxia and cerebellar anomalies - childhood onset
- Neonatal diabetes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Familial diabetes
- Structural eye disease
- Multi-organ autoimmune diabetes
- Retinal disorders
- Mitochondrial disorders
- Bilateral congenital or childhood onset cataracts
- Optic neuropathy
- Glaucoma (developmental)
- Monogenic hearing loss
- Familial Meniere Disease
History Filter Activity
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to WFS1.
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)WFS1 was created by ellenmcdonagh
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)WFS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red