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| Thoracic aortic aneurysm or dissection (GMS) v0.47 | EFEMP2 | Ivone Leong Publications for gene: EFEMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.35 | EFEMP2 | Ivone Leong reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.34 | EFEMP2 |
Ivone Leong Source Expert Review Green was added to EFEMP2. Source NHS GMS was added to EFEMP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Thoracic aortic aneurysm or dissection (GMS) v0.30 | EFEMP2 | James Eden reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28868310, 22440127; Phenotypes: Cutis laxa, autosomal recessive, type IB 614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.30 | EFEMP2 | Matthew Edwards reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20019329, 17937443, 22440127; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v0.0 | EFEMP2 |
Ellen McDonagh gene: EFEMP2 was added gene: EFEMP2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437; aortic aneurysm |
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