Hereditary spastic paraplegia
Gene: KIF1AAs 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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia; hereditary sensory neuropathy; intellectual disability (monoallelic)
Publications
Tag watchlist was removed from gene: KIF1A.
Mode of inheritance for KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
KIF1A was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
KIF1A was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list
KIF1A was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list