Familial non syndromic congenital heart diseaseGene: SMAD6
Only three reported patients -two with aortic stenosis. Not recognised on G2P
Created: 30 Nov 2016, 11:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortic valve disease 2, 614823
Promoted to version 1 by Alice Gardham on 26th January
This gene has been classified as Red List (Low Evidence).
SMAD6 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature,Radboud University Medical Center, Nijmegen
SMAD6 was created by agardham