ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Arterial tortuosity syndrome
Gene/Gene Panel: SLC2A10
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2023/05/03
Released (Under revision)
1.4.0
A
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Morbidity and mortality related to cardiovascular complications (GroupA)
Evaluation by specialist to detect cardiovascular complications and guide treatment (GroupA) 10NC
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
While reviewing this previously scored topic in preparation for assertions, we realized that the original scores for the two cardiac outcome/intervention pairs did not fully reflect the available data. We combined the two pairs together, revised the pairs language, and re-scored in February 2022 based on the data in the report as it was generated in 2017.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC2A10 ⇔ 0008818 ARTERIAL TORTUOSITY SYNDROME; ATORS
Strong Actionability
Moderate Actionability
2022/02/23
Released
1.4.0
A
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Morbidity and mortality related to cardiovascular complications (GroupA)
Evaluation by specialist to detect cardiovascular complications and guide treatment (GroupA) 10NC
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
While reviewing this previously scored topic in preparation for assertions, we realized that the original scores for the two cardiac outcome/intervention pairs did not fully reflect the available data. We combined the two pairs together, revised the pairs language, and re-scored in February 2022 based on the data in the report as it was generated in 2017.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC2A10 ⇔ 0008818 ARTERIAL TORTUOSITY SYNDROME; ATORS
Strong Actionability
Moderate Actionability
2021/12/07
Released (Under revision)
1.3.2
A
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
Corrected MONDO ID to a different format
2020/05/12
Released
1.3.2
A
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
Corrected MONDO ID to a different format
2020/05/12
Released (Under revision)
1.3.1
A
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
2020/04/22
Released
1.3.1
A
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
2020/04/22
Released (Under revision)
1.3.0
A
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.3.0
A
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.2.0
A
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10NB
Clinically significant aortic aneurysms
Surveillance 10NB
Pregnancy-associated complications
High risk pregnancy management 7DN
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ND
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.1.1
A
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10NB
Clinically significant aortic aneurysms
Surveillance 10NB
Pregnancy-associated complications
High risk pregnancy management 7DN
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ND
Internal system migration related to score text replacement from E to N
2018/02/19
Released
1.1.0
A
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10EB
Clinically significant aortic aneurysms
Surveillance 10EB
Pregnancy-associated complications
High risk pregnancy management 7DE
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ED
2018/02/19
Released (Under revision)
1.0.0
A
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10EB
Clinically significant aortic aneurysms
Surveillance 10EB
Pregnancy-associated complications
High risk pregnancy management 7DE
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ED
2018/02/19
Released
1.0.0
A
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10EB
Clinically significant aortic aneurysms
Surveillance 10EB
Pregnancy-associated complications
High risk pregnancy management 7DE
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ED
¤ Powered by BCM's Genboree.