Familial dysautonomia
Gene: KIF1AComment 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Decreased sensation is the predominant feature but variable autonomic dysfunction is seenCreated: 17 Nov 2016, 3:45 p.m.
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
Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Publications for gene: KIF1A were set to 21820098; 21089229
Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC 614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Green List (High Evidence).
Publications for KIF1A were set to 21820098; 21089229
KIF1A was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
KIF1A was created by sleigh