Hereditary ataxia
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
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:18 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Loads of evidence in lit positive in our cohortCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Wolfram syndrome 1, 222300
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Hereditary ataxia, adult onset
- Monogenic nephrogenic diabetes insipidus
- Undiagnosed metabolic disorders
- Monogenic hearing loss
- 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
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Familial diabetes
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Multi-organ autoimmune diabetes
- Retinal disorders
- Mitochondrial disorders
- Optic neuropathy
- Glaucoma (developmental)
- Familial Meniere Disease
History Filter Activity
9 Jan 2019, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)WFS1 was added to Hereditary ataxiapanel. Sources: UKGTN