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| Pneumothorax v0.11 | TSC1 | Sangavi Sivagnanasundram edited their review of gene: TSC1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.11 | TSC1 |
Sangavi Sivagnanasundram changed review comment from: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax. The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis. There are many reported individuals with a diagnosis of LAM has been reported with pneumothorax. ; to: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax. The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis. There are many reported individuals with a diagnosis of LAM has been reported with pneumothorax. This gene would be green when curated against LAM however red when curated against TSC as pneumothorax is a secondary feature. |
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| Pneumothorax v0.11 | TSC1 | Sangavi Sivagnanasundram edited their review of gene: TSC1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.11 | TSC1 |
Sangavi Sivagnanasundram changed review comment from: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax. The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause.; to: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax. The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis. There are many reported individuals with a diagnosis of LAM has been reported with pneumothorax. |
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| Pneumothorax v0.11 | TSC1 | Sangavi Sivagnanasundram edited their review of gene: TSC1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.11 | TSC1 | Sangavi Sivagnanasundram reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: None; Publications: 27226234, 23729718, 19318672; Phenotypes: tuberous sclerosis 1 MONDO:0008612, lung lymphangioleiomyomatosis MONDO:0006277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pneumothorax v0.0 | TSC1 |
Bryony Thompson gene: TSC1 was added gene: TSC1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSC1 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001 Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1, OMIM:191100; Lymphangioleiomyomatosis, OMIM:606690 |
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