Pain syndromes
Gene: KIF1AEnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:34 a.m.
Comment on list classification: changed from Amber to Green after review with clinical teamCreated: 18 Jul 2017, 11:18 a.m.
Comment on list classification: To be reviewed by clinical team regarding the pertinence of this gene- could be Amber?Created: 9 Jul 2017, 6:20 p.m.
PMID: 21820098 (2011) 3 unrelated famiiles (but only one case described as having spontaneous pain)Created: 9 Jul 2017, 4:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory, type IIC; 614213
Publications
Arianna Tucci (Genomics England Curator)
Would have it as green as pain alteration is part of the spectrum described in all familiesCreated: 13 Jul 2017, 10:01 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Review
- Literaure
- Phenotypes
-
- Neuropathy, hereditary sensory, type IIC, OMIM:614213
- OMIM
- 601255
- Clinvar variants
- Variants in KIF1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Adult onset neurodegenerative disorder
- Familial dysautonomia
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Pain syndromes
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for KIF1A were set to Neuropathy, hereditary sensory, type IIC, 614213; Hereditary Sensory and Autonomic Neuropathy, Type II
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for KIF1A were set to Neuropathy, hereditary sensory, type IIC; 614213;Hereditary Sensory and Autonomic Neuropathy, Type II
Upload gene information
Louise Daugherty (Genomics England Curator)KIF1A was added to Pain syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Upload gene information
Louise Daugherty (Genomics England Curator)KIF1A was added to Pain syndromespanel. Sources: Emory Genetics Laboratory
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Louise Daugherty (Genomics England Curator)KIF1A was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)KIF1A was added to Pain syndromespanel. Sources: Literaure,Review