ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Ehlers-Danlos Syndrome Type IV
Gene/Gene Panel: COL3A1
Context: Pediatric
2022/02/09
Released
1.0.1
Morbidity and mortality from arterial or organ rupture
(GroupA)
Referral to specialists to guide appropriate risk management including surveillance for aneurysm
(GroupA)
9CD
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL3A1
⇔
0017314 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
Moderate Actionability
Moderate Actionability
2022/02/09
Released
(Under revision)
1.0.0
Morbidity and mortality from arterial or organ rupture
(GroupA)
Referral to specialists to guide appropriate risk management including surveillance for aneurysm
(GroupA)
9CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL3A1
⇔
0017314 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
Moderate Actionability
Moderate Actionability
2021/03/30
Released
1.0.0
Morbidity and mortality from arterial or organ rupture
(GroupA)
Referral to specialists to guide appropriate risk management including surveillance for aneurysm
(GroupA)
9CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL3A1
⇔
0017314 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
Moderate Actionability
Moderate Actionability
2020/08/28
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic