Inherited phaeochromocytoma and paraganglioma

Gene: KIF1B

Red List (low evidence)

KIF1B (kinesin family member 1B)
EnsemblGeneIds (GRCh38): ENSG00000054523
EnsemblGeneIds (GRCh37): ENSG00000054523
OMIM: 605995, Gene2Phenotype
KIF1B is in 3 panels

3 reviews

Treena Cranston (Oxford)

I don't know

Publications

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Only a single family with no LOH in tumours to back up pathogenicity.
Created: 28 Feb 2016, 2:55 p.m.

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

A single missense variant had been found in a patient and her paternal grandfather with bilateral PCC, citing this as a new PCC gene
Created: 16 Oct 2015, 2:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Charcot-Marie-Tooth disease, type 2A1, 118210Pheochromocytoma, 171300{Neuroblastoma, susceptibility to, 1}, 256700
OMIM
605995
Clinvar variants
Variants in KIF1B
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

KIF1B was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen