Mitochondrial 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
Sarah Leigh (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Wolfram syndrome 1, 222300
- Deafness, autosomal dominant 6/14/38, 600965
- Wolfram-like syndrome, autosomal dominant, 614296
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Monogenic nephrogenic diabetes insipidus
- Optic neuropathy
- Structural eye disease
- Adult onset neurodegenerative disorder
- Intellectual disability
- Familial diabetes
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Multi-organ autoimmune diabetes
- Monogenic hearing loss
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
- Glaucoma (developmental)
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Familial Meniere Disease
- Bilateral congenital or childhood onset cataracts
History Filter Activity
23 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: WFS1 was added gene: WFS1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, 222300; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296