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Ataxia - paediatric

Gene: TUBB4A

Green List (high evidence)

TUBB4A (tubulin beta 4A class IVa)
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. At least 8 unrelated families reported.

Leukodystrophy: multiple individuals reported, onset of symptoms is typically in infancy and early childhood.
Created: 6 Jan 2022, 5:02 a.m. | Last Modified: 6 Jan 2022, 5:02 a.m.
Panel Version: 0.10533

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, 612438
  • Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438
  • Dystonia 4, torsion, autosomal dominant, 128101
OMIM
602662
Clinvar variants
Variants in TUBB4A
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TUBB4A was added gene: TUBB4A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101