ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Familial thoracic aortic aneurysms and dissections (FTAAD)
Gene/Gene Panel: FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.4
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
ACTA2 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
Strong Actionability
Strong Actionability
FBN1 ⇔ 0019625 MARFAN SYNDROME; MFS
Strong Actionability
Strong Actionability
LOX ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10
Strong Actionability
Strong Actionability
MYH11 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4
Strong Actionability
Strong Actionability
PRKG1 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8
Strong Actionability
Strong Actionability
SMAD3 ⇔ 0019625 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0019625 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Strong Actionability
TGFBR1 ⇔ 0019625 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Strong Actionability
TGFBR2 ⇔ 0019625 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
1.0.3
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
ACTA2 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
Strong Actionability
Strong Actionability
FBN1 ⇔ 0019625 MARFAN SYNDROME; MFS
Strong Actionability
Strong Actionability
LOX ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10
Strong Actionability
Strong Actionability
MYH11 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4
Strong Actionability
Strong Actionability
PRKG1 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8
Strong Actionability
Strong Actionability
SMAD3 ⇔ 0019625 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0019625 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Strong Actionability
TGFBR1 ⇔ 0019625 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Strong Actionability
TGFBR2 ⇔ 0019625 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Strong Actionability
2021/08/04
Released
1.0.3
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
ACTA2 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
Strong Actionability
Strong Actionability
FBN1 ⇔ 0019625 MARFAN SYNDROME; MFS
Strong Actionability
Strong Actionability
LOX ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10
Strong Actionability
Strong Actionability
MYH11 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4
Strong Actionability
Strong Actionability
PRKG1 ⇔ 0019625 AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8
Strong Actionability
Strong Actionability
SMAD3 ⇔ 0019625 LOEYS-DIETZ SYNDROME 3; LDS3
Strong Actionability
Strong Actionability
TGFB2 ⇔ 0019625 LOEYS-DIETZ SYNDROME 4; LDS4
Strong Actionability
Strong Actionability
TGFBR1 ⇔ 0019625 LOEYS-DIETZ SYNDROME 1; LDS1
Strong Actionability
Strong Actionability
TGFBR2 ⇔ 0019625 LOEYS-DIETZ SYNDROME 2; LDS2
Strong Actionability
Strong Actionability
2021/08/02
Released (Under revision)
1.0.2
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CB
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
MONDO IDs added, scoring groups unadjusted.
2020/12/23
Released
1.0.2
P
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 11CB
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 12CC
MONDO IDs added, scoring groups unadjusted.
2019/10/03
Released (Under revision)
1.0.1
P
Aortic dilation progression
Pharmacotherapy 11CB
Clinically significant aortic aneurysm
Aortic surveillance 12CC
2019/09/16
Released
1.0.1
P
Aortic dilation progression
Pharmacotherapy 11CB
Clinically significant aortic aneurysm
Aortic surveillance 12CC
2019/09/16
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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