Adult onset hereditary spastic paraplegia
Gene: TUBB4AEnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Childhood and Adult onset.Created: 10 May 2019, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Reported in several cases with hypomyelinating leukodystrophy-6 featuring spasticity as clinical phenotypeCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 612438 AD; ataxia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Dystonia 4, torsion, autosomal dominant, 128101
- ataxia
- Leukodystrophy, hypomyelinating, 612438 AD
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- None
- 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
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to TUBB4A.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to TUBB4A. Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; ataxia; Leukodystrophy, hypomyelinating, 612438 AD for gene: TUBB4A Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TUBB4A.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: TUBB4A was added gene: TUBB4A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: TUBB4A was set to