Hereditary ataxia with onset in adulthood
Gene: WFS1EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 24 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Lots of cases and variants in the literature. Missense variants also reported in association with an autosomal dominant form of disease, however this doesn't seem to include ataxia or cerebellar abnormalities as part of the phenotype. In our experience it is common to identify heterozygous missense variants in this gene (often absent from gnomAD) and therefore think reasonable to only report compound heterozygous or homozygous individualsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolfram syndrome 1, 222300
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Wolfram syndrome 1, 222300
- OMIM
- 606201
- Clinvar variants
- Variants in WFS1
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal diabetes
- Monogenic nephrogenic diabetes insipidus
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Monogenic diabetes
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Familial diabetes
- Multi-organ autoimmune diabetes
- Hereditary ataxia
- DDG2P
- Glaucoma (developmental)
- Familial Meniere Disease
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Wolfram syndrome 1, 222300 for gene: WFS1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to WFS1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to WFS1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: WFS1 was added gene: WFS1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal