Inherited white matter disorders
Gene: TUBA1AEnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Should be in Malformations of cortical development panel.Created: 6 Oct 2016, 10:04 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed DD gene for Lissencephaly Type 3, more than 3 cases in OMIM for Lissencephaly 3 and found in 3/4 original sources of gene panels. Is not in the minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 or on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory. Should be green if Lissencephaly 3 is considered a white matter disorder.Created: 25 Aug 2016, 3:20 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- Lissencephaly 3
- Lissencephaly, Dominant
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TUBA1A was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TUBA1A was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TUBA1A was added to Inherited white matter disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)TUBA1A was created by ellenmcdonagh