Adult onset hereditary spastic paraplegia
Gene: KIF1AEnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Spastic paraplegia 30, autosomal dominant, OMIM:610357
- Spastic paraplegia 30, autosomal recessive, OMIM:610357
- NESCAV syndrome, OMIM:614255
- OMIM
- 601255
- Clinvar variants
- Variants in KIF1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset neurodegenerative disorder
- Familial dysautonomia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Pain syndromes
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: KIF1A were set to 21487076; 22258533; 28362824
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: KIF1A were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to KIF1A.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)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)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KIF1A.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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