Hereditary ataxia with onset in adulthood
Gene: WFS1
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.
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
Added phenotypes Wolfram syndrome 1, 222300 for gene: WFS1
Source NHS GMS was added to WFS1.
Source Wessex and West Midlands GLH was added to WFS1.
Louise Daugherty: Comment on phenotypes: Implica
Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
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