| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pneumothorax v0.6 | ELN | Bryony Thompson Marked gene: ELN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.6 | ELN | Bryony Thompson Gene: eln has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.6 | ELN |
Bryony Thompson gene: ELN was added gene: ELN was added to Pneumothorax. Sources: Other Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELN were set to 30416599; 30681372 Phenotypes for gene: ELN were set to cutis laxa, autosomal dominant 1 MONDO:0007411 Mode of pathogenicity for gene: ELN was set to Other Review for gene: ELN was set to RED Added comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as presenting feature. A single case was reported with the presentation of bilateral pneumothorax and mentioned a genetic diagnosis of ADCL, which implies an ELN pathogenic variant. Sources: Other |
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