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Hereditary neuropathy NOT PMP22 copy number

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

6 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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 could be changed from 'biallelic' to 'both mono- and biallelic' if it is decided to include genes on this panel that cause neuropathy as part of a more complex phenotype (tagged for GMS review)
Created: 5 Aug 2021, 1:13 p.m. | Last Modified: 5 Aug 2021, 1:13 p.m.
Panel Version: 1.35

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • 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
Tags
Q3_21_MOI Q3_21_expert_review
OMIM
601255
Clinvar variants
Variants in KIF1A
Penetrance
None
Panels with this gene

History Filter Activity

5 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIF1A were changed from Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 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

5 Aug 2021, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_MOI tag was added to gene: KIF1A. Tag Q3_21_expert_review tag was added to gene: KIF1A.

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 BIALLELIC, autosomal or pseudoautosomal

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: KIF1A was added gene: KIF1A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213