Adult onset hereditary spastic paraplegia
Gene: TUBB4A
Childhood and Adult onset.Created: 10 May 2019, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
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
Source Yorkshire and North East GLH was added to TUBB4A.
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)
Source NHS GMS was added to TUBB4A.
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