Hereditary ataxia - adult onsetGene: B3GALNT2
Comment on list classification: New gene added by Wessex and West Midlands GLH. Gene and Green rating to be discussed by the Neurology Test Group in July 2019.
Created: 19 Jun 2019, 12:05 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.
Cerebellar abnormalities reported (dysplasia and pontocerebellar hypoplasia). Multiple families across the published papers - functional evidence provided in original report.
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy type A11, 615181
Gene: b3galnt2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: B3GALNT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Muscular dystrophy-dystroglycanopathy type A11, 615181 for gene: B3GALNT2
Source NHS GMS was added to B3GALNT2.
gene: B3GALNT2 was added gene: B3GALNT2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: B3GALNT2 was set to