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Hereditary neuropathy NOT PMP22 copy number

Gene: KIF1B

Red List (low evidence)

KIF1B (kinesin family member 1B)
EnsemblGeneIds (GRCh38): ENSG00000054523
EnsemblGeneIds (GRCh37): ENSG00000054523
OMIM: 605995, Gene2Phenotype
KIF1B is in 4 panels

7 reviews

Louise Daugherty (Genomics England Curator)

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.

Natalie Forrester (SWGLH - Bristol Genetics)

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

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from green to red due to expert review and their comments.
Created: 5 May 2016, 8:33 a.m.

Alexander Rossor (UCL Institute of Neurology)

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

Mary Reilly (Institute of Neurology)

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

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NHS GMS
  • South West GLH
Phenotypes
  • Charcot Marie Tooth disease, type 2A1, 118210
OMIM
605995
Clinvar variants
Variants in KIF1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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