Hereditary neuropathy
Gene: KIF1AComment on mode of inheritance: Biallelic variants are associated with autonomic-sensory neuropathy (MIM# 614213). KIF1A is also associated HSP type 30 (MIM# 610357) which can be inherited recessively or dominantly, as well as NESCAV syndrome (MIM# 614255) caused by heterozygous variants in this gene - both monoallelic conditions have been shown to include peripheral sensorimotor neuropathy.
For this reason, the MOI has been changed from 'biallelic' to 'both mono- and biallelic'Created: 5 Aug 2021, 1:10 p.m. | Last Modified: 5 Aug 2021, 1:10 p.m.
Panel Version: 1.390
in OMIM and other panelApppanels both AD and AR are reported. AD and AR conditions have neuropathy reported.Created: 27 Jul 2021, 7:03 p.m. | Last Modified: 27 Jul 2021, 7:03 p.m.
Panel Version: 1.388
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA 30; NESCAV SYNDROME
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, 614213; Hereditary Sensory and Autonomic Neuropathy, Type II to Neuropathy, hereditary sensory, type IIC, OMIM:614213; Spastic paraplegia 30, autosomal dominant, OMIM:610357; Spastic paraplegia 30, autosomal recessive, OMIM:610357; NESCAV syndrome, OMIM:614255
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, 614213; others; Hereditary Sensory and Autonomic Neuropathy, Type II to Neuropathy, hereditary sensory, type IIC, 614213; Hereditary Sensory and Autonomic Neuropathy, Type II
Source NHS GMS was added to KIF1A.
Source London North GLH was added to KIF1A. Rating Changed from Green List (high evidence) to 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
KIF1A was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
KIF1A was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory
Model of inheritance for gene KIF1A was changed to BIALLELIC, autosomal or pseudoautosomal
KIF1A was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory
KIF1A was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory