Genes in panel

Hereditary ataxia - adult onset

Gene: TUBB

Red List (low evidence)

TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 12 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.

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

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

History Filter Activity

19 Jun 2019, Gel status: 1

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

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

19 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Complex cortical dysplasia with other brain malformations 6, 615771 for gene: TUBB

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TUBB.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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