Hereditary spastic paraplegia, adult onset
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
-
- Hereditary spastic paraplegia, childhood onset
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia, adult onset
- Hereditary spastic paraplegia, adult onset
- Intellectual disability
- Dystonia, chorea or related movement disorder, adult onset
- Leukodystrophy, adult onset
- Inherited white matter disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary spastic paraplegia
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
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