Adult onset hereditary spastic paraplegia
Gene: SLC25A46
Childhood onset; a single family with mild spasticity.Created: 10 May 2019, 9:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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.
Victoria: causes Neuropathy, hereditary motor and sensory, type VIB and pontocerebellar hypoplasiaCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, type VIB, 616505
Publications for gene: SLC25A46 were set to
Source Yorkshire and North East GLH was added to SLC25A46.
Source Expert Review Red was added to SLC25A46. Mode of inheritance for gene SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Source NHS GMS was added to SLC25A46.
gene: SLC25A46 was added gene: SLC25A46 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC25A46 was set to