Inherited phaeochromocytoma and paragangliomaGene: KIF1B
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.
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
This gene has been classified as Red List (Low Evidence).
KIF1B was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen