Hereditary spastic paraplegia
Gene: KIF1AEnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Changed MOI from 'biallelic' only to 'both mono- and biallelic'
De novo and inherited heterozygous variants in the motor domain have been identified in patients with pure and complex HSP. Variants outside motor domain reported to be biallelic. Both adult and childhood onset. Null alleles show biallelic inheritance.Created: 4 Aug 2021, 2:07 p.m. | Last Modified: 4 Aug 2021, 2:07 p.m.
Panel Version: 1.230
Louise Daugherty (Genomics England Curator)
As a result of watchlist tag audit the watchlist tag was removed from KIF1A- this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 3:19 p.m. | Last Modified: 13 Jan 2020, 3:19 p.m.
Panel Version: 1.213
helen kingston (CMFT NHS Foundation Trust, Manchester)
Ellen Thomas (Genomics England Curator)
Comment on mode of inheritance: Consider monoallelic OR biallelic in next review - evidence of dominant negative effect in some cases as described in OMIM entry.Created: 27 Nov 2016, 9:28 a.m.
emma baple (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia; hereditary sensory neuropathy; intellectual disability (monoallelic)
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- 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
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Adult onset neurodegenerative disorder
- Familial dysautonomia
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Pain syndromes
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- 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 Erlich et al. (2011)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, autosomal recessive to Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Removed Tag
Louise Daugherty (Genomics England Curator)Tag watchlist was removed from gene: KIF1A.
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)KIF1A was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)KIF1A was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)KIF1A was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list