Pain syndromes

Gene: KIF1A

Green List (high evidence)

KIF1A (kinesin family member 1A)
EnsemblGeneIds (GRCh38): ENSG00000130294
EnsemblGeneIds (GRCh37): ENSG00000130294
OMIM: 601255, Gene2Phenotype
KIF1A is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on phenotypes: reformatted phenotype listing
Created: 19 Sep 2017, 11:34 a.m.
Comment on list classification: changed from Amber to Green after review with clinical team
Created: 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)

Green List (high evidence)

Would have it as green as pain alteration is part of the spectrum described in all families
Created: 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, 614213
  • Hereditary Sensory and Autonomic Neuropathy, Type II
OMIM
601255
Clinvar variants
Variants in KIF1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2017, Gel status: 4

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.

19 Sep 2017, Gel status: 4

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

18 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jul 2017, Gel status: 2

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

11 Jul 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

KIF1A was added to Pain syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services

11 Jul 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

KIF1A was added to Pain syndromespanel. Sources: Emory Genetics Laboratory

9 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

KIF1A was created by LouiseD

9 Jul 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

KIF1A was added to Pain syndromespanel. Sources: Literaure,Review