ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Ehlers-Danlos syndrome, classic type
Gene/Gene Panel: COL5A2, COL5A1
Context: Pediatric
2025/06/18
Released
1.0.0
Ehlers-Danlos syndrome, classic type-related morbidity
(GroupA)
Referral to specialists for symptom management and anticipatory guidance
(GroupA)
8ND
New report in the pediatric context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL5A1
⇔
0007522 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1
Moderate Actionability
Moderate Actionability
COL5A2
⇔
0007522 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2
Moderate Actionability
Moderate Actionability
2022/03/30
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic