Hereditary neuropathy

Gene: KIF1B

I don't know

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.

I don't know

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-penetrance

Created: 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

• 11389829
• 25802885

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Comment on list classification: Demoted from green to red due to expert review and their comments.

Created: 5 May 2016, 8:33 a.m.

Red List (low evidence)

Delete from panel. Original family in which gene reported now thought to have pathogenic mutation in MFN2

Created: 9 Dec 2015, 8:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Red List (low evidence)

Delete from panel. Original family in which gene reported now thought to have pathogenic mutation in MFN2

Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Red List (low evidence)

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

• PMID: 26392352