Bilateral congenital or childhood onset cataracts
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)
WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants in this gene. There is enough evidence for this gene to be green.Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:45 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: WFS1; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- ?Cataract 41, 116400
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neonatal diabetes
- Intellectual disability
- Likely inborn error of metabolism
- Monogenic nephrogenic diabetes insipidus
- Undiagnosed metabolic disorders
- Hereditary ataxia with onset in adulthood
- Optic neuropathy
- Structural eye disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic hearing loss
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Familial diabetes
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hereditary ataxia
- Glaucoma (developmental)
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Familial Meniere Disease
History Filter Activity
28 Aug 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: WFS1 was added gene: WFS1 was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 27217304; 21067485; 28468959; 23531866; 21623599; 23373429; 28271591; 16151413; 27468121 Phenotypes for gene: WFS1 were set to ?Cataract 41, 116400