Hereditary neuropathy or pain disorder
Gene: KIF1B
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
3x C4s in Bristol (no family studies). Classified prior to ACMG guidance so possibly these would now be C3s of uncertain significance. PMID: 11389829 - Q98L mutant KIF1B protein has decreased ATPase activity and motility. 25802885 - 2 sibs with c.4073T>C, affected cousin not tested but intervening unaffected relatives the paper suggest is due to non-penetranceCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, type 2A1, 118210
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Demoted from green to red due to expert review and their comments.Created: 5 May 2016, 8:33 a.m.
Delete from panel. Original family in which gene reported now thought to have pathogenic mutation in MFN2Created: 9 Dec 2015, 8:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Delete from panel. Original family in which gene reported now thought to have pathogenic mutation in MFN2Created: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene was added to the UKTGN approved CMT panel because it has an OMIM entry associated with CMT. Following testing of 480 patients, no one had a definite pathogenic variant, and the gene is very polymorphic, making variant classification very difficult. This gene should be amber.Created: 7 Oct 2015, 10:57 a.m.
Publications
gene: KIF1B was added gene: KIF1B was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF1B were set to 11389829; 25802885 Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210