| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pneumothorax v0.13 | SMAD2 | Bryony Thompson Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.12 | SMAD2 | Bryony Thompson Classified gene: SMAD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.12 | SMAD2 | Bryony Thompson Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.12 | SMAD2 | Bryony Thompson Gene: smad2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.11 | SMAD2 | Sangavi Sivagnanasundram reviewed gene: SMAD2: Rating: RED; Mode of pathogenicity: None; Publications: 26247899; Phenotypes: Loeys-Dietz syndrome 6 MONDO:0030500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.0 | SMAD2 |
Bryony Thompson gene: SMAD2 was added gene: SMAD2 was added to Pneumothorax. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome,MONDO:0018954 Mode of pathogenicity for gene: SMAD2 was set to Other |
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