Hereditary ataxia with onset in adulthood
Gene: 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
Phenotypes
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