Hereditary neuropathy
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
Added phenotypes Charcot Marie Tooth disease, type 2A1, 118210 for gene: KIF1B Publications for gene KIF1B were changed from PMID: 26392352 to 11389829; 25802885
Source NHS GMS was added to KIF1B.
Source South West GLH was added to KIF1B.
This gene has been classified as Red List (Low Evidence).
Publications for KIF1B were set to PMID: 26392352
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KIF1B was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KIF1B was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KIF1B was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene KIF1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KIF1B was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory
KIF1B was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory