Activity
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| Pneumothorax - familial v3.8 | ABL1 |
Matthew Edwards gene: ABL1 was added gene: ABL1 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABL1 were set to PMID: 32643838; PMID: 41416177; PMID: 23826103; PMID: 33223528 Phenotypes for gene: ABL1 were set to CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM Penetrance for gene: ABL1 were set to unknown Review for gene: ABL1 was set to GREEN Added comment: This gene is green on R125 FTAA panel, and several papers have pneumothorax as a presenting feature of CHDSKM (see PMIDs above). Our lab has also had a case with a pathogenic variant and pneumothorax as the primary presenting feature. Appropriate therefore for gene to be represnted on this panel. Sources: NHS GMS |
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