| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pneumothorax v0.7 | LTBP4 | Bryony Thompson Marked gene: LTBP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.7 | LTBP4 | Bryony Thompson Gene: ltbp4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.7 | LTBP4 |
Bryony Thompson gene: LTBP4 was added gene: LTBP4 was added to Pneumothorax. Sources: Other Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP4 were set to 30681372; 35921570 Phenotypes for gene: LTBP4 were set to Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170 Review for gene: LTBP4 was set to RED Added comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single case of pneumothorax in a family with ARCL and biallelic variants has been reported in the literature. Sources: Other |
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