Pain syndromes
Gene: KIF1A
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
Would have it as green as pain alteration is part of the spectrum described in all familiesCreated: 13 Jul 2017, 10:01 a.m.
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
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for KIF1A were set to Neuropathy, hereditary sensory, type IIC, 614213; Hereditary Sensory and Autonomic Neuropathy, Type II
This gene has been classified as Green List (High Evidence).
Phenotypes for KIF1A were set to Neuropathy, hereditary sensory, type IIC; 614213;Hereditary Sensory and Autonomic Neuropathy, Type II
KIF1A was added to Pain syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
KIF1A was added to Pain syndromespanel. Sources: Emory Genetics Laboratory
This gene has been classified as Amber List (Moderate Evidence).
KIF1A was created by LouiseD
KIF1A was added to Pain syndromespanel. Sources: Literaure,Review