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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 |
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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 |