Hereditary spastic paraplegia, childhood onset
Gene: TUBB4AEnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Childhood and Adult onsetCreated: 10 May 2019, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Reported in several cases with hypomyelinating leukodystrophy-6 featuring spasticity as clinical phenotypeCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating; Mast syndrome, 248900 SPATI, AD; 612438; ataxia
Arianna Tucci (Genomics England Curator)
onset in infancy or early childhoodCreated: 25 Feb 2019, 11:10 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert Review
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 6 612438
- ataxia
- Dystonia 4, torsion, autosomal dominant 128101
- OMIM
- 602662
- Clinvar variants
- Variants in TUBB4A
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- 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
- 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
- Hereditary spastic paraplegia, 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
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TUBB4A.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to TUBB4A.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Leukodystrophy, hypomyelinating, 6 612438; ataxia; Dystonia 4, torsion, autosomal dominant 128101 for gene: TUBB4A
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Onset at birth
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: TUBB4A was added gene: TUBB4A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant 128101; ataxia; Leukodystrophy, hypomyelinating, 6 612438