This Panel is marked as Internal
Dystonia - childhood onset
Gene: TUBB4A
TUBB4A (tubulin beta 4A class IVa)
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- ?Dystonia 4, torsion, autosomal dominant, 128101
- Dystonia
- hereditary whispering dysphonia
- Leukodystrophy, hypomyelinating, 6 612438
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Fetal anomalies
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TUBB4A was added gene: TUBB4A was added to Dystonia - childhood onset. 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 ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia; Leukodystrophy, hypomyelinating, 6 612438