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: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/01/14
Released (Under revision)
1.1.4
A
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 11CC
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
2021/08/16
Released
1.1.4
A
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 11CC
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
2021/08/16
Released (Under revision)
1.1.3
A
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 11CC
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
2021/08/16
Released
1.1.3
A
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 11CC
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)
1.1.2
A
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 11CC
MONDO IDs added, scoring groups unadjusted.
2020/12/23
Released
1.1.2
A
Aortic dilation progression (GroupA)
Pharmacotherapy (GroupA) 10CB
Clinically significant aortic aneurysm (GroupA)
Aortic surveillance (GroupA) 11CC
MONDO IDs added, scoring groups unadjusted.
2019/10/03
Released (Under revision)
1.1.1
A
Aortic dilation progression
Pharmacotherapy 10CB
Clinically significant aortic aneurysm
Aortic surveillance 11CC
2019/09/16
Released
1.1.1
A
Aortic dilation progression
Pharmacotherapy 10CB
Clinically significant aortic aneurysm
Aortic surveillance 11CC
2019/07/15
Released (Under revision)
1.1.0
A
Aortic dilation progression
Beta blockers 11DC
Clinically significant aortic aneurysm
Aortic surveillance 11DC
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
A
Aortic dilation progression
Beta blockers 11DC
Clinically significant aortic aneurysm
Aortic surveillance 11DC
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Aortic dilation progression
Beta blockers 11DC
Clinically significant aortic aneurysm
Aortic surveillance 11DC
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.1
A
Aortic dilation progression
Beta blockers 11DC
Clinically significant aortic aneurysm
Aortic surveillance 11DC
2017/10/23
Released
1.0.0
A
Aortic dilation progression
Beta blockers 11DC
Clinically significant aortic aneurysm
Aortic surveillance 11DC
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