Adult 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, 5:44 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
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.
mutations I dentified in 2 unrelated faimilies, both with homozygous mutations sausing. In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 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, AR
Publications for gene: KIF1A were set to 21487076; 22258533; 28362824
Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR; Mental retardation, autosomal dominant 9, 614255, AD to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
Publications for gene: KIF1A were set to
Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source Yorkshire and North East GLH was added to KIF1A.
Source Expert Review Green was added to KIF1A. Mode of inheritance for gene KIF1A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR; Mental retardation, autosomal dominant 9, 614255, AD for gene: KIF1A Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to KIF1A.
gene: KIF1A was added gene: KIF1A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIF1A was set to