Hereditary ataxia - adult onsetGene: SLC25A46
HMSN with ataxia as part of phenotype. More suited to another panel. Not on Ox or Shef.
Created: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.
Multiple variants reported across papers - associated with a spectrum of disease and ataxia/cerebellar abnormalities a frequent part of phenotype. Also pontocerebellar hypoplasia in the most extreme of cases
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hereditary motor and sensory neuropathy type VIB, 616505
Variants in this GENE are reported as part of current diagnostic practice
Gene: slc25a46 has been classified as Green List (High Evidence).
Mode of inheritance for gene: SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source London North GMS was added to SLC25A46.
Added phenotypes Hereditary motor and sensory neuropathy type VIB, 616505 for gene: SLC25A46
Source NHS GMS was added to SLC25A46.
gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC25A46 was set to