Hereditary ataxia with onset in adulthood
Gene: TUBB2A
No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLHCreated: 1 Aug 2019, 1:38 p.m. | Last Modified: 1 Aug 2019, 1:38 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.
Multiple de novo variants seem to have been reported in literature, however cerebellar abnormalities do not seem to be a predominant feature of disease, better suited to other panelsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Complex cortical dysplasia with other brain malformations 5, 615763
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Phenotypes for gene: TUBB2A were changed from Complex cortical dysplasia with other brain malformations 5, 615763 to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Mode of inheritance for gene: TUBB2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Complex cortical dysplasia with other brain malformations 5, 615763 for gene: TUBB2A
Source NHS GMS was added to TUBB2A.
gene: TUBB2A was added gene: TUBB2A was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBB2A was set to