1. Panels
  2. Hereditary ataxia with onset in adulthood
  3. KIF1C
Genes in panel
Prev Next

Hereditary ataxia with onset in adulthood

Gene: KIF1C

Green List (high evidence)
KIF1C (kinesin family member 1C)
EnsemblGeneIds (GRCh38): ENSG00000129250
EnsemblGeneIds (GRCh37): ENSG00000129250
OMIM: 603060, Gene2Phenotype
KIF1C is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple reports in the literature
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive spastic ataxia 2, 611302

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Spastic ataxia 2, autosomal recessive, OMIM:611302
OMIM
603060
Clinvar variants
Variants in KIF1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KIF1C were set to

19 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive; Autosomal recessive spastic ataxia 2, 611302 to Spastic ataxia 2, autosomal recessive, OMIM:611302

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Autosomal recessive spastic ataxia 2, 611302 for gene: KIF1C

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KIF1C.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to KIF1C.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: KIF1C was added gene: KIF1C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive