ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Marfan Syndrome
Gene/Gene Panel: FBN1
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/01/14
Released (Under revision)
1.1.3
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
FBN1 ⇔ 0007947 MARFAN SYNDROME; MFS
Strong Actionability
Definitive Actionability
2021/08/04
Released
1.1.3
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
FBN1 ⇔ 0007947 MARFAN SYNDROME; MFS
Strong Actionability
Definitive Actionability
2021/08/02
Released (Under revision)
1.1.2
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
2020/08/19
Released
1.1.2
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
2020/08/19
Released (Under revision)
1.1.1
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
Added MONDO IDs.
2020/04/22
Released
1.1.1
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
Added MONDO IDs.
2020/04/22
Released (Under revision)
1.1.0
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.1.0
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/08/26
Released
1.0.0
P
Aortic dilation progression
Pharmacotherapy 11CA
Clinically significant aortic aneurysm
Aortic surveillance 12CB
2019/06/11
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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