Structural basal ganglia disorders
Gene: TUBA1A
TUBA1A (tubulin alpha 1a)
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels
1 review
Manju Kurian (UCL-Institute of Child Health)
I am not sure that this gene causes specifically basal ganglia structural abnormalitiesCreated: 1 Mar 2017, 1:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Lissencephaly 3 611603
- OMIM
- 602529
- Clinvar variants
- Variants in TUBA1A
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Inherited white matter disorders
- Familial Hirschsprung Disease
- Cerebral vascular malformations
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Fetal anomalies
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
7 Sep 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TUBA1A was added to Structural basal ganglia disorderspanel. Source: UKGTN
7 Sep 2016, Gel status: 3
Added New Source
Sarah Leigh (Genomics England Curator)TUBA1A was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
7 Sep 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)TUBA1A was added to Structural basal ganglia disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
7 Sep 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)TUBA1A was added to Structural basal ganglia disorderspanel. Sources: Emory Genetics Laboratory
7 Sep 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)TUBA1A was created by sleigh