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Spontaneous coronary artery dissection v0.39 SMAD2 Ain Roesley Publications for gene: SMAD2 were set to 29967133
Spontaneous coronary artery dissection v0.38 SMAD2 Ain Roesley edited their review of gene: SMAD2: Changed publications: 32897753, 30448172
Spontaneous coronary artery dissection v0.38 SMAD2 Ain Roesley edited their review of gene: SMAD2: Changed publications: PMID: 32897753, 30448172
Spontaneous coronary artery dissection v0.38 SMAD2 Ain Roesley changed review comment from: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.
Sources: Literature; to: PMID: 32897753
3x individuals with SCAD, all missense and absent/1 het in gnomad v4

PMID: 30448172
1x individual with a missense, absent in gnomad v4

Sources: Literature
Spontaneous coronary artery dissection v0.2 SMAD2 Ain Roesley Marked gene: SMAD2 as ready
Spontaneous coronary artery dissection v0.2 SMAD2 Ain Roesley Gene: smad2 has been classified as Green List (High Evidence).
Spontaneous coronary artery dissection v0.2 SMAD2 Ain Roesley Classified gene: SMAD2 as Green List (high evidence)
Spontaneous coronary artery dissection v0.2 SMAD2 Ain Roesley Gene: smad2 has been classified as Green List (High Evidence).
Spontaneous coronary artery dissection v0.1 SMAD2 Ain Roesley gene: SMAD2 was added
gene: SMAD2 was added to Spontaneous coronary artery dissection. 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
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, MIM# 619656
Penetrance for gene: SMAD2 were set to Complete
Review for gene: SMAD2 was set to GREEN
gene: SMAD2 was marked as current diagnostic
Added comment: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.
Sources: Literature