Incidentalome
Gene: TUBA4A

TUBA4A (tubulin alpha 4a)
EnsemblGeneIds (GRCh38): ENSG00000127824
EnsemblGeneIds (GRCh37): ENSG00000127824
OMIM: 191110, Gene2Phenotype
TUBA4A is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Multiple individuals reported. However, some are identified as part of cohorts and no segregation data is available (PMID 25374358). Two families reported in PMID 28069311, however one of the individuals had an alternative diagnosis. No variants in this gene identified in a cohort of 814 FTD patients from Spain.
Created: 25 Sep 2020, 4:29 a.m. | Last Modified: 25 Sep 2020, 4:29 a.m.

Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208

Publications

Created: 25 Sep 2020, 4:29 a.m.
Last Modified: 25 Sep 2020, 4:29 a.m.
Panel version: 0.39

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: >3 independent ALS cases reported
Created: 18 Dec 2019, 7:27 a.m. | Last Modified: 18 Dec 2019, 7:27 a.m.

Panel Version: 0.28

Created: 18 Dec 2019, 7:27 a.m.
Last Modified: 18 Dec 2019, 7:27 a.m.
Panel version: Imported from Motor Neurone Disease panel version Imported from Amyotrophic Lateral Sclerosis and Motor Neuron Disease panel version 0.28

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Royal Melbourne Hospital
Victorian Clinical Genetics Services

Phenotypes

Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208

OMIM

191110

Clinvar variants

Variants in TUBA4A

Penetrance

None

Publications

Panels with this gene