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Hereditary neuropathy
Gene: KIF1A

KIF1A (kinesin family member 1A)
EnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels

7 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 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

Created: 5 Aug 2021, 1:10 p.m.
Last Modified: 5 Aug 2021, 1:10 p.m.
Panel version: 1.390

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

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

Created: 27 Jul 2021, 7:03 p.m.
Last Modified: 27 Jul 2021, 7:03 p.m.
Panel version: 1.388

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.

Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.80

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

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
London North GLH
Expert Review Green
Emory Genetics Laboratory
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

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

OMIM

601255

Clinvar variants

Variants in KIF1A

Penetrance

Complete

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 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

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

29 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KIF1A.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to KIF1A. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 May 2016, Gel status: 4