Hereditary ataxia - adult onsetGene: SLC52A2
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 reports and variants in the literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bwon-Vialetto-Van Laere syndrome 2
Phenotypes for gene: SLC52A2 were changed from Bwon-Vialetto-Van Laere syndrome 2 to Bwon-Vialetto-Van Laere syndrome 2, 614707
Mode of inheritance for gene: SLC52A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: slc52a2 has been classified as Green List (High Evidence).
Added phenotypes Bwon-Vialetto-Van Laere syndrome 2 for gene: SLC52A2
Source NHS GMS was added to SLC52A2.
gene: SLC52A2 was added gene: SLC52A2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC52A2 was set to