Hereditary ataxia
Gene: KIF1CEnsemblGeneIds (GRCh38): ENSG00000129250
EnsemblGeneIds (GRCh37): ENSG00000129250
OMIM: 603060, Gene2Phenotype
KIF1C is in 9 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:08 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Good evidence in litCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 2,autosomal recessive
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic ataxia 2, autosomal recessive, OMIM:611302
- OMIM
- 603060
- Clinvar variants
- Variants in KIF1C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Intellectual disability
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: KIF1C were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KIF1C were changed from Spastic ataxia 2,autosomal recessive to Spastic ataxia 2, autosomal recessive, OMIM:611302
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KIF1C was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KIF1C was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen