Hereditary ataxia with onset in adulthood
Gene: TUBB
No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLHCreated: 1 Aug 2019, 1:37 p.m. | Last Modified: 1 Aug 2019, 1:37 p.m.
Panel Version: 1.182
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.
Three de novo variants reported with functional support in second paper, however, ataxia (with cerebellar abnormalities) only reported in a single patient. Feels like this is more suited to alternate panelCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Complex cortical dysplasia with other brain malformations 6, 615771
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: TUBB 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: TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Complex cortical dysplasia with other brain malformations 6, 615771 for gene: TUBB
Source NHS GMS was added to TUBB.
gene: TUBB was added gene: TUBB was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBB was set to