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Aortopathy_Connective Tissue Disorders v0.26 SMAD3 Paul De Fazio reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v0.16 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Aortopathy_Connective Tissue Disorders v0.15 SMAD3 Zornitza Stark Publications for gene: SMAD3 were set to
Aortopathy_Connective Tissue Disorders v0.14 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v0.13 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21217753, 30661052; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMAD3 was set to Unknown