Hereditary ataxia with onset in adulthood
Gene: TUBB3
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.
As above, compared with other forms of this disorder cerebellar abnormalities appear to be more prominentCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Complex cortical dysplasia with other brain abnormalities 1, 614039
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Mode of pathogenicity for gene: TUBB3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: tubb3 has been classified as Green List (High Evidence).
Added phenotypes Complex cortical dysplasia with other brain abnormalities 1, 614039 for gene: TUBB3
Source NHS GMS was added to TUBB3.
gene: TUBB3 was added gene: TUBB3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBB3 was set to