Glaucoma (developmental)
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
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Wolfram syndrome with childhood onset optic atrophy: many familiesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome; Wolfram-like syndrome, autosomal dominant; ?Cataract 41; 222300; 614296; 116400
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Wolfram syndrome with childhood onset optic atrophy: many familiesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome, 222300; Wolfram-like syndrome, autosomal dominant, 614296; ?Cataract 41, 116400
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Monogenic nephrogenic diabetes insipidus
- Optic neuropathy
- Familial diabetes
- Adult onset neurodegenerative disorder
- Neonatal diabetes
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Structural eye disease
- Monogenic hearing loss
- Hereditary ataxia
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)WFS1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory