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Amyotrophic lateral sclerosis/motor neuron disease

Gene: TUBA4A

Green List (high evidence)
TUBA4A (tubulin alpha 4a)
EnsemblGeneIds (GRCh38): ENSG00000127824
EnsemblGeneIds (GRCh37): ENSG00000127824
OMIM: 191110, Gene2Phenotype
TUBA4A is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

At least 15 TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia (in 4/13 unrelated cases) and nystagmus (in 5/13 unrelated cases) have been noted as additional phenotypic features in patients reported by PMID: 37418012; 38884572. Furthermore, functional studies show that missense TUBA4A variants significantly alter the microtubule organization and dynamics, diminishing its repolymerization capability (PMID: 25374358; 38884572).
Created: 24 Sep 2024, 3:33 p.m. | Last Modified: 24 Sep 2024, 4:29 p.m.
Panel Version: 1.73
Created: 24 Sep 2024, 3:33 p.m.
Last Modified: 24 Sep 2024, 4:29 p.m.
Panel version: 1.73

Agnese Zarina (Rīga Stradiņš Univeristy)

I don't know

Gene is added to "Neurodegenerative disorders - adult onset" panel, but the phenotype can be also amyotrophic lateral sclerosis with or without frontotemporal dementia
Sources: Literature
Created: 17 Jun 2021, 10:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia

Publications

  • https://doi.org/10.1016/j.neuron.2014.09.027

Created: 17 Jun 2021, 10:52 a.m.

Panel version: 1.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208
  • amyotrophic lateral sclerosis type 22, MONDO:0014531
OMIM
191110
Clinvar variants
Variants in TUBA4A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Sep 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TUBA4A were set to 25374358

24 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tuba4a has been classified as Green List (High Evidence).

24 Sep 2024, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531

24 Sep 2024, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TUBA4A were set to https://doi.org/10.1016/j.neuron.2014.09.027

17 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Agnese Zarina (Rīga Stradiņš Univeristy)

gene: TUBA4A was added gene: TUBA4A was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA4A were set to https://doi.org/10.1016/j.neuron.2014.09.027 Phenotypes for gene: TUBA4A were set to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia Penetrance for gene: TUBA4A were set to Complete Review for gene: TUBA4A was set to AMBER