Possible mitochondrial disorder, nuclear genes
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
Ivone Leong (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: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Deafness, autosomal dominant 6/14/38, 600965
- Wolfram-like syndrome, autosomal dominant, 614296
- Wolfram syndrome 1, 222300
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Monogenic nephrogenic diabetes insipidus
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Neurodegenerative disorders, adult onset
- Neonatal diabetes
- Possible mitochondrial disorder, nuclear genes
- Optic neuropathy
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Familial diabetes
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Multi-organ autoimmune diabetes
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- DDG2P
- Retinal disorders
- Mitochondrial disorders
- Familial Meniere Disease
History Filter Activity
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: WFS1 was added gene: WFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WFS1 were set to Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome 1, 222300