Activity
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10 actions
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| Thoracic aortic aneurysm or dissection (GMS) v1.29 | FBLN5 | Arina Puzriakova Publications for gene: FBLN5 were set to 12189163; 27089918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v1.28 | FBLN5 | Arina Puzriakova Phenotypes for gene: FBLN5 were changed from to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.56 | FBLN5 |
Ivone Leong Source Expert Review Green was added to FBLN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.55 | FBLN5 | Kate Thomson reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | FBLN5 | Ivone Leong reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.34 | FBLN5 |
Ivone Leong Source NHS GMS was added to FBLN5. Source Expert Review Amber was added to FBLN5. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.33 | FBLN5 | Ivone Leong Publications for gene: FBLN5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | FBLN5 | James Eden changed review comment from: Gene is associated with cutis laxa, which includes aortic symptoms.; to: Gene is associated with cutis laxa, which includes aortic symptoms. Also associated with age-related macular degeneration and autistic spectrum disorder in HGMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.32 | FBLN5 | James Eden reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: 12189163, 27089918; Phenotypes: ?Cutis laxa, autosomal dominant 2 614434, Cutis laxa, autosomal recessive, type IA 219100, Macular degeneration, age-related, 3 608895, Neuropathy, hereditary, with or without age-related macular degeneration 608895; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | FBLN5 |
Ellen McDonagh gene: FBLN5 was added gene: FBLN5 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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