Dystonia, chorea or related movement disorder, adult onset
Gene: TUBB4AEnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Leukodystrophy, hypomyelinating, 6, OMIM:612438Created: 29 Mar 2021, 4:14 p.m. | Last Modified: 29 Mar 2021, 4:14 p.m.
Panel Version: 1.95
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Dystonia 4, torsion, autosomal dominant, OMIM:128101
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia, childhood onset
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia, adult onset
- Hereditary spastic paraplegia, adult onset
- Intellectual disability
- Dystonia, chorea or related movement disorder, adult onset
- Leukodystrophy, adult onset
- Inherited white matter disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary spastic paraplegia
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TUBB4A were changed from Complex parkinsonism; hypomyelinating leukodystrophy 6; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia to Dystonia 4, torsion, autosomal dominant, OMIM:128101
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TUBB4A.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to TUBB4A.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TUBB4A was added gene: TUBB4A was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB4A were set to 27809427; 24526230; 24850488; 23582646 Phenotypes for gene: TUBB4A were set to Complex parkinsonism; hypomyelinating leukodystrophy 6; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia