Familial dysautonomia

Gene: KIF1A

Green List (high evidence)

KIF1A (kinesin family member 1A)
EnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 16 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)

Green List (high evidence)

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 seen
Created: 17 Nov 2016, 3:45 p.m.

Sarah Leigh (Genomics England Curator)

I don't know

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

History Filter Activity

5 Aug 2021, Gel status: 3

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

5 Aug 2021, Gel status: 3

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

5 Aug 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KIF1A were set to 21820098; 21089229

4 Aug 2021, Gel status: 3

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

1 Dec 2016, Gel status: 4

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.

17 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

17 Nov 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for KIF1A were set to 21820098; 21089229

26 Aug 2016, Gel status: 4

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

26 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KIF1A was created by sleigh