Adult onset hereditary spastic paraplegia
Gene: KIF5A
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.
Varied age onset. in current HSP panel + Sheffield panel.Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187
Publications for gene: KIF5A were set to
Source Yorkshire and North East GLH was added to KIF5A.
Source Expert Review Green was added to KIF5A. Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 for gene: KIF5A Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to KIF5A.
gene: KIF5A was added gene: KIF5A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIF5A was set to