Hereditary spastic paraplegia

Gene: KIF1A

Green List (high evidence)

KIF1A (kinesin family member 1A)
EnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 13 panels

3 reviews

helen kingston (CMFT NHS Foundation Trust, Manchester)

Green List (high evidence)

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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia; hereditary sensory neuropathy; intellectual disability (monoallelic)

Publications

Details

Mode of Inheritance
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 recessive
Tags
watchlist
OMIM
601255
Clinvar variants
Variants in KIF1A
Penetrance
Complete
Publications
  • Erlich et al. (2011)
Panels with this gene

History Filter Activity

27 Nov 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 1

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