Familial non syndromic congenital heart disease

Gene: NOTCH1

Green List (high evidence)

Associated with congenital bicuspid aortic valve (not included in entry criteria) which may predispose to later calcification. Also possible association with aortic stenosis, VSD, hypoplastic left heart, Tetraology of Fallot but may not be fully penetrant. Mutations identified in more than three families and segregates with variable congenital heart disease in multiple affected family members

Created: 30 Nov 2016, 10:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Aortic valve disease 1, 109730

Publications

• 16025100, 18593716, 5070860