Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: KIF1A

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. At least 4 families reported, although 3 shared same founder variant.

De novo variants in this gene are also more commonly associated with spastic paraplegia, and a complex neurodevelopmental disorder, NESCAV syndrome.
Created: 5 May 2021, 11:09 a.m. | Last Modified: 5 May 2021, 11:09 a.m.
Panel Version: 0.113

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary sensory, type IIC, MIM# 614213
  • NESCAV syndrome, MIM# 614255
  • Spastic paraplegia 30, autosomal dominant MIM# 610357
  • Spastic paraplegia 30, autosomal recessive 620607
OMIM
601255
Clinvar variants
Variants in KIF1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, MIM# 610357 to Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607

12 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif1a has been classified as Green List (High Evidence).

12 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF1A were changed from to Neuropathy, hereditary sensory, type IIC, MIM# 614213; NESCAV syndrome, MIM# 614255; Spastic paraplegia 30, MIM# 610357

12 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF1A were set to

12 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF1A was added gene: KIF1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF1A was set to Unknown