Structural eye disease
Gene: WFS1EnsemblGeneIds (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
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- ?Cataract 41, 116400
- Wolfram-like syndrome, autosomal dominant, 614296
- Wolfram syndrome, 222300
- Eye Disorders
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Panels with this gene
-
- Neonatal diabetes
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Monogenic nephrogenic diabetes insipidus
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- Optic neuropathy
- Structural eye disease
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Monogenic diabetes
- Possible mitochondrial disorder - nuclear genes
- Familial diabetes
- Multi-organ autoimmune diabetes
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- DDG2P
- Glaucoma (developmental)
- Familial Meniere Disease
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to WFS1. Mode of inheritance for gene WFS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; ?Cataract 41, 116400 for gene: WFS1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: WFS1 was added gene: WFS1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: WFS1 was set to Phenotypes for gene: WFS1 were set to Eye Disorders