Structural basal ganglia disorders
Gene: TUBB4AEnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Variants also reported in Dystonia 4, torsion, autosomal dominant 128101Created: 16 Mar 2017, 12:35 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 6 variants reported.Created: 16 Mar 2017, 12:34 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 6 612438
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TUBB4A were set to Leukodystrophy, hypomyelinating, 6 612438
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for TUBB4A were set to 23582646; 24850488; 24526230
Added New Source
Sarah Leigh (Genomics England Curator)TUBB4A was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)TUBB4A was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)TUBB4A was created by sleigh