ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Loeys-Dietz Syndrome
Gene/Gene Panel: TGFBR1, TGFBR2, SMAD3
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/01/14
Released (Under revision)
3.0.4
A
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Strong Actionability
TGFB3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 5; LDS5
Strong Actionability
Strong Actionability
TGFBR1 ⇔ 0018954 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Strong Actionability
TGFBR2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Strong Actionability
2021/08/24
Released
3.0.4
A
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Strong Actionability
TGFB3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 5; LDS5
Strong Actionability
Strong Actionability
TGFBR1 ⇔ 0018954 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Strong Actionability
TGFBR2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Strong Actionability
2021/08/24
Released (Under revision)
3.0.3
A
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Assertion Pending
TGFB3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 5; LDS5
Strong Actionability
Assertion Pending
TGFBR1 ⇔ 0018954 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Assertion Pending
TGFBR2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Assertion Pending
2021/08/16
Released
3.0.3
A
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Assertion Pending
TGFB3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 5; LDS5
Strong Actionability
Assertion Pending
TGFBR1 ⇔ 0018954 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Assertion Pending
TGFBR2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Assertion Pending
2021/08/16
Released (Under revision)
3.0.2
A
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Assertion Pending
TGFB3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 5; LDS5
Strong Actionability
Assertion Pending
TGFBR1 ⇔ 0018954 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Assertion Pending
TGFBR2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Assertion Pending
2021/08/16
Released
3.0.2
A
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Assertion Pending
TGFB3 ⇔ 0018954 LOEYS-DIETZ SYNDROME 5; LDS5
Strong Actionability
Assertion Pending
TGFBR1 ⇔ 0018954 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Assertion Pending
TGFBR2 ⇔ 0018954 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Assertion Pending
2021/08/02
Released (Under revision)
3.0.1
A
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
MONDO IDs added
2020/05/02
Released
3.0.1
A
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
MONDO IDs added
2019/10/03
Released (Under revision)
3.0.0
A
Aortic Dilation Progression
Pharmacotherapy 10CB
Clinically Significant Aortic Aneurysm
Aortic surveillance 12CC
2019/08/19
Released
3.0.0
A
Aortic Dilation Progression
Pharmacotherapy 10CB
Clinically Significant Aortic Aneurysm
Aortic surveillance 12CC
2019/07/15
Released (Under revision)
2.1.0
A
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 11CB
Clinically Significant Aortic Aneurysm
Surveillance 12CB
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
2.1.0
A
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 11CB
Clinically Significant Aortic Aneurysm
Surveillance 12CB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
2.0.2
A
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 11CB
Clinically Significant Aortic Aneurysm
Surveillance 12CB
Internal system migration related to score text replacement from E to N
2018/01/11
Released
2.0.1
A
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 11CB
Clinically Significant Aortic Aneurysm
Surveillance 12CB
2017/12/08
Released
2.0.0
A
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 11CB
Clinically Significant Aortic Aneurysm
Surveillance 12CB
2017/12/08
Released
1.2.0
A
Aortic Dilation Progression
Beta-blockers 12CC
Clinically Significant Aortic Aneurysm
Surveillance 12CC
2017/12/08
Released
1.1.0
A
Aortic Dilation Progression
Beta-blockers 12CC
Clinically Significant Aortic Aneurysm
Surveillance 12CC
2017/12/08
Released
1.0.0
A
Aortic Dilation Progression
Beta-blockers 12CC
Clinically Significant Aortic Aneurysm
Risk Reducing Surgery
Surveillance 12CC
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