ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Marfan Syndrome
Gene/Gene Panel: FBN1
Context: Adult
Date
Status
Outcomes-Interventions
Notes
2022/01/14
Released (Under revision)
2.1.4
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
2021/08/16
Released
2.1.4
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
2021/08/16
Released (Under revision)
2.1.3
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
2021/08/16
Released
2.1.3
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)
2.1.2
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
2020/08/19
Released
2.1.2
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
2020/08/19
Released (Under revision)
2.1.1
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CA
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CB
Added MONDO IDs.
2020/04/22
Released
2.1.1
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)
2.1.0
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
2.1.0
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.
2019/07/02
Released
2.0.0
Aortic dilation progression
Pharmacotherapy 11CA
Clinically significant aortic aneurysm
Aortic surveillance 12CB
2019/05/20
Released (Under revision)
1.1.0
Aortic Dilation Progression
Beta-blockers 12CA
Clinically Significant Aortic Aneurysms
Surveillance 12CB
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
Aortic Dilation Progression
Beta-blockers 12CA
Clinically Significant Aortic Aneurysms
Surveillance 12CB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
Aortic Dilation Progression
Beta-blockers 12CA
Clinically Significant Aortic Aneurysms
Surveillance 12CB
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.1
Aortic Dilation Progression
Beta-blockers 12CA
Clinically Significant Aortic Aneurysms
Surveillance 12CB
2017/10/31
Released
1.0.0
Aortic Dilation Progression
Beta-blockers 12CA
Clinically Significant Aortic Aneurysms
Surveillance 12CB
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