Childhood onset hereditary spastic paraplegia
Gene: KIF5A
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.
Varied age onset. in current HSP panel and Sheffield panel.Created: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187
Onset of SPG10 variable; onset in the second decade described (25352184)Created: 14 Jan 2019, 5:12 p.m.
Mode of inheritance for gene: KIF5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source Yorkshire and North East GLH was added to KIF5A.
Source NHS GMS was added to KIF5A.
Source London North GLH was added to KIF5A.
Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187 for gene: KIF5A
Arianna Tucci: Onset of SPG10 variable; onset
Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant to Spastic paraplegia 10, autosomal dominant, 604187
Publications for gene: KIF5A were set to Reid et al. (2002)
gene: KIF5A was added gene: KIF5A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5A were set to Reid et al. (2002) Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant