ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Loeys-Dietz Syndrome
Gene/Gene Panel: SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.3
P
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 11CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
Internal system migration associated with MONDO name addition.
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
2022/02/09
Released (Under revision)
1.0.2
P
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 11CB
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
2021/08/04
Released
1.0.2
P
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 11CB
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
2021/08/02
Released (Under revision)
1.0.1
P
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 11CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
MONDO IDs added
2020/05/02
Released
1.0.1
P
Aortic Dilation Progression (GroupA)
Pharmacotherapy (GroupA) 11CB
Clinically Significant Aortic Aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
MONDO IDs added
2019/10/03
Released (Under revision)
1.0.0
P
Aortic Dilation Progression
Pharmacotherapy 11CB
Clinically Significant Aortic Aneurysm
Aortic surveillance 12CC
2019/09/04
Released
1.0.0
P
Aortic Dilation Progression
Pharmacotherapy 11CB
Clinically Significant Aortic Aneurysm
Aortic surveillance 12CC
2019/07/15
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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