Hereditary spastic paraplegia
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
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene is green on the Early onset dystonia Version 1.30, Hereditary ataxia Version 1.56, Intellectual disability Version 1.110, Inherited white matter disorders Version 1.6, Structural basal ganglia disorders Version 1.0 gene panels and was discussed and agreed with Arianna Tucci that this gene should also be green on the HSP panel.Created: 31 Mar 2017, 11:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 4, torsion, autosomal dominant 128101; Leukodystrophy, hypomyelinating, 6 612438; ataxia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Dystonia 4, torsion, autosomal dominant 128101
- Leukodystrophy, hypomyelinating, 6 612438
- ataxia
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Adult onset leukodystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
31 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
31 Mar 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TUBB4A was created by ellenmcdonagh
31 Mar 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TUBB4A was added to Hereditary spastic paraplegiapanel. Sources: Expert Review