Hereditary ataxia with onset in adulthood
Gene: TUBB

TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLH
Created: 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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.182

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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 panel
Created: 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

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Wessex and West Midlands GLH

Phenotypes

Complex cortical dysplasia with other brain malformations 6, 615771

OMIM

191130

Clinvar variants

Variants in TUBB

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene