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| Spontaneous coronary artery dissection v0.41 | TGFB3 | Ain Roesley Publications for gene: TGFB3 were set to 30071989; 25835445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.40 | TGFB3 | Ain Roesley edited their review of gene: TGFB3: Changed publications: 32897753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.40 | TGFB3 |
Ain Roesley changed review comment from: Uncertain for isolated aneurysm, but causes broader connective tissue disorder phenotype. 43 patients from 11 reported with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlapped clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity Sources: Literature; to: PMID: 32897753 4x individuals with missense, however only 3x with personal history of SCAD Sources: Literature |
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| Spontaneous coronary artery dissection v0.8 | TGFB3 | Ain Roesley Marked gene: TGFB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.8 | TGFB3 | Ain Roesley Gene: tgfb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.8 | TGFB3 | Ain Roesley Classified gene: TGFB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.8 | TGFB3 | Ain Roesley Gene: tgfb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.7 | TGFB3 |
Ain Roesley gene: TGFB3 was added gene: TGFB3 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFB3 were set to 30071989; 25835445 Phenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5 MIM#615582 Review for gene: TGFB3 was set to GREEN gene: TGFB3 was marked as current diagnostic Added comment: Uncertain for isolated aneurysm, but causes broader connective tissue disorder phenotype. 43 patients from 11 reported with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. Other systemic features overlapped clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity Sources: Literature |
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