Inherited white matter disorders
Gene: TUBB4AEnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM, multiple families and different variants reported in OMIM for association with Leukodystrophy, hypomyelinating, 6. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 5 Aug 2016, 9:14 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_595
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 10:28 a.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 10:26 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dystonia 4, torsion, autosomal dominant, 128101
- Leukodystrophy, hypomyelinating, 6, 612438
- Leukodystrophy, hypomyelinating 6
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- 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
- Intellectual disability
- 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
- Adult onset hereditary spastic paraplegia
- 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 McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TUBB4A were set to Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438; Leukodystrophy, hypomyelinating 6; General Leukodystrophy & Mitochondrial Leukoencephalopathy
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for TUBB4A were set to 25655951
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TUBB4A was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Ellen McDonagh (Genomics England Curator)TUBB4A was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TUBB4A was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen