Tumour predisposition - childhood onsetGene: NOTCH3
Seems to be one family reported so far with heterozygous germline variant in NOTCH3 that segregayed with Infantile myofibromatosis.
Created: 17 Feb 2017, 1:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NOTCH3 was added to Paediatric congenital malformation-dysmorphism-tumour syndromespanel. Sources: Literature
NOTCH3 was created by ellenmcdonagh