Variants in this gene have recently been associated with Loeys-Dietz syndrome. Since only a small number of cases have been described to date, further work is required to determine whether individuals with variants in SMAD2 commonly present with the craniofacial features associated with this condition.
Created: 12 Sep 2018, 12:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: SMAD2 was added gene: SMAD2 was added to Clefting. Sources: Literature Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 29967133; 29392890 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome Review for gene: SMAD2 was set to AMBER