| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pneumothorax v0.17 | TGFBR1 | Bryony Thompson Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.16 | TGFBR1 | Bryony Thompson Classified gene: TGFBR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.16 | TGFBR1 | Bryony Thompson Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.16 | TGFBR1 | Bryony Thompson Gene: tgfbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.11 | TGFBR1 | Sangavi Sivagnanasundram reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: 16799921, 25835445; Phenotypes: Loeys-Dietz syndrome MONDO:0018954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.0 | TGFBR1 |
Bryony Thompson gene: TGFBR1 was added gene: TGFBR1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884 Phenotypes for gene: TGFBR1 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192 |
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