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| Congenital Heart Defect v0.162 | SMAD2 | Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.161 | SMAD2 | Zornitza Stark edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.152 | SMAD2 | Zornitza Stark Marked gene: SMAD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.152 | SMAD2 | Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.152 | SMAD2 | Zornitza Stark Classified gene: SMAD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.152 | SMAD2 | Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.151 | SMAD2 |
Zornitza Stark gene: SMAD2 was added gene: SMAD2 was added to Congenital Heart Defect. Sources: Expert Review Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 29967133; 30157302; 23665959 Phenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease Review for gene: SMAD2 was set to GREEN Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far. PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype Sources: Expert Review |
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