Update History
Condition: Marfan Syndrome
Gene/Gene Panel: FBN1
Context: Adult
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