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| Spontaneous coronary artery dissection v0.32 | FBN1 | Ain Roesley edited their review of gene: FBN1: Changed publications: 29357934, 34842564, 35092149; Changed phenotypes: Marfan syndrome MIM#154700, familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.32 | FBN1 |
Ain Roesley changed review comment from: Dominant-negative and LoF (haploinsufficiency) have been reported as disease mechanisms (OMIM). PTV are associated with more severe MFS and with aortic events. Missense are associated with a milder MFS and less often result in aortic events (PMID: 29357934 ). definitive by clingen curation Sources: Literature; to: Dominant-negative and LoF (haploinsufficiency) have been reported as disease mechanisms (OMIM). PTV are associated with more severe MFS and with aortic events. Missense are associated with a milder MFS and less often result in aortic events (PMID: 29357934 ). definitive by clingen curation at least 3x individuals with Marfan + FBN1 variant have been reported with SCAD PMID: 34842564, 35092149 Sources: Literature |
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| Spontaneous coronary artery dissection v0.18 | FBN1 | Ain Roesley Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.18 | FBN1 | Ain Roesley Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.18 | FBN1 | Ain Roesley Classified gene: FBN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.18 | FBN1 | Ain Roesley Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.17 | FBN1 |
Ain Roesley gene: FBN1 was added gene: FBN1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 29357934 Phenotypes for gene: FBN1 were set to Marfan syndrome MIM#154700; familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related Review for gene: FBN1 was set to GREEN gene: FBN1 was marked as current diagnostic Added comment: Dominant-negative and LoF (haploinsufficiency) have been reported as disease mechanisms (OMIM). PTV are associated with more severe MFS and with aortic events. Missense are associated with a milder MFS and less often result in aortic events (PMID: 29357934 ). definitive by clingen curation Sources: Literature |
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