Familial dysautonomia
Gene: KIF1AEnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Changed MOI from 'biallelic' to 'both mono- and biallelic' - features of dysautonomia are observed in multiple KIF1A-related phenotypes, including an autonomic-sensory neuropathy (MIM# 614213) associated with biallelic inheritance and NESCAV syndrome (MIM# 614255) caused by monoallelic variants in this gene. Therefore, both MOIs are pertinent to this panel.Created: 5 Aug 2021, 1:38 p.m. | Last Modified: 5 Aug 2021, 1:38 p.m.
Panel Version: 1.13
Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alice Gardham (Genomics England)
Comment when marking as ready: Decreased sensation is the predominant feature but variable autonomic dysfunction is seenCreated: 17 Nov 2016, 3:45 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P / DD. Two frame-shifting variants reported in an alternative splice product of KIF1A. Variant c.2840delT was reported as a homozygote in affected members of three apparently unrelated families from Afghanistan, Belgium and Turkey and c.5271dupC was a compound heterozygote with an c.2840delT in one family from Belgium. These variants map to the alternatively spliced exon 25b of KIF1A. However, this publication states "KIF1A mutations showed no clinical autonomic dysfunction".Created: 26 Aug 2016, 2:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory, type IIC 614213
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neuropathy, hereditary sensory, type IIC, OMIM:614213
- NESCAV syndrome, OMIM:614255
- OMIM
- 601255
- Clinvar variants
- Variants in KIF1A
- Penetrance
- Complete
- 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 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, OMIM:614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213; NESCAV syndrome, OMIM:614255
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: KIF1A were set to 21820098; 21089229
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC 614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for KIF1A were set to 21820098; 21089229
Added New Source
Sarah Leigh (Genomics England Curator)KIF1A was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)KIF1A was created by sleigh