Childhood onset hereditary spastic paraplegia
Gene: KIF1A
Mutations in the motor domain shown to be dominant. Large number of de novo and inherited mutations identified using Sheffield panel in patients with pure and complex HSP. Mutations outside motor domain reported to be biallelic. Both adult and childhood onset. Null alleles show biallelic inheritance.Created: 9 May 2019, 5:43 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
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.
mutations I dentified in 2 unrelated faimilies, both with homozygous mutations sausing. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213
Spastic paraplegia 30 onset in the first decade described (22258533)Created: 14 Jan 2019, 5:10 p.m.
Publications for gene: KIF1A were set to 21487076; 22258533; 28362824
Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213 to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357 to Spastic paraplegia 30, autosomal recessive, 610357; Mental retardation, autosomal dominant 9, 614255, AD; Neuropathy, hereditary sensory, type IIC, 614213
Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 21487076; 22258533
Source Yorkshire and North East GLH was added to KIF1A.
Source NHS GMS was added to KIF1A.
Source London North GLH was added to KIF1A.
Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 for gene: KIF1A
Arianna Tucci: Spastic paraplegia 30 onset in
Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal recessive, 610357
Publications for gene: KIF1A were set to Erlich et al. (2011)
gene: KIF1A was added gene: KIF1A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1A were set to Erlich et al. (2011) Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive