Dystonia - isolated/combined
Gene: TUBB4AEnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 27 Oct 2020, 9:54 a.m. | Last Modified: 27 Oct 2020, 9:54 a.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 4, torsion, autosomal dominant, MIM# 128101
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- hereditary whispering dysphonia
- Dystonia 4, torsion, autosomal dominant, 128101
- Dystonia
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early-onset Parkinson disease
- Regression
- Leukodystrophy - adult onset
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Mendeliome
- Dystonia - isolated/combined
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tubb4a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TUBB4A were changed from hereditary whispering dysphonia; Leukodystrophy, hypomyelinating, 6 612438; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia to hereditary whispering dysphonia; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TUBB4A were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TUBB4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TUBB4A was added gene: TUBB4A was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to hereditary whispering dysphonia; Leukodystrophy, hypomyelinating, 6 612438; Dystonia 4, torsion, autosomal dominant, 128101; Dystonia