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| Pneumothorax v0.11 | TGFBR2 | Sangavi Sivagnanasundram reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22488992, 26493799; Phenotypes: Loeys-Dietz syndrome 2 MONDO:0012427; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.0 | TGFBR2 |
Bryony Thompson gene: TGFBR2 was added gene: TGFBR2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TGFBR2 were set to 25006744; 26493799; 15591413; 23161884 Phenotypes for gene: TGFBR2 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168 |
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