Adult solid tumours for rare diseaseGene: KIT
Gain of function.
Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gastro-Intestinal Stromal Tumor
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
5th March 2018 - promoted to version 1 after expert review and internal clinical review.
KIT was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
KIT was created by Ellen McDonagh