ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Cerebral cavernous malformations 1, 2, and 3
Gene/Gene Panel: KRIT1, CCM2, PDCD10
Context: Pediatric
2025/11/17
Released
1.0.0
Morbidity and mortality due to familial cerebral cavernous malformation-related complications including hemorrhage
(GroupA)
Referral to specialist to guide MRI surveillance and treatment (surgery and/or pharmacotherapy)
(GroupA)
6CD
New report for pediatric context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
KRIT1
⇔
0020724 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
Assertion Pending
Limited Actionability
CCM2
⇔
0011304 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Assertion Pending
Limited Actionability
PDCD10
⇔
0011305 INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE, SUBUNIT BETA; IKBKB
Assertion Pending
Limited Actionability
2022/03/30
In Preparation
N/A