Childhood onset hereditary spastic paraplegia
Gene: TUBB4A
Childhood and Adult onsetCreated: 10 May 2019, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
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
onset in infancy or early childhoodCreated: 25 Feb 2019, 11:10 a.m.
Source Yorkshire and North East GLH was added to TUBB4A.
Source NHS GMS was added to TUBB4A.
Source London North GLH was added to TUBB4A.
Added phenotypes Leukodystrophy, hypomyelinating, 6 612438; ataxia; Dystonia 4, torsion, autosomal dominant 128101 for gene: TUBB4A
Arianna Tucci: Onset at birth
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