ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Cerebral cavernous malformations 1, 2, and 3
Gene/Gene Panel: KRIT1, CCM2, PDCD10
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2025/11/17
Released
2.0.0
A
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) 7DD
Updated report for the adult context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
KRIT1 ⇔ 0020724 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
Limited Actionability
Limited Actionability
CCM2 ⇔ 0011304 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Limited Actionability
Limited Actionability
PDCD10 ⇔ 0011305 INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE, SUBUNIT BETA; IKBKB
Limited Actionability
Limited Actionability
2025/10/15
Released (Under revision)
1.1.4
A
Hemorrhage (GroupA)
Medication (simvastatin, fasudil) (GroupA) 7CD
MRI (GroupA) 7CC
Delivery management (GroupA) 8CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
KRIT1 ⇔ 0000820 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
Moderate Actionability
Limited Actionability
CCM2 ⇔ 0000820 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Moderate Actionability
Limited Actionability
PDCD10 ⇔ 0000820 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
Moderate Actionability
Limited Actionability
2023/05/01
Released
1.1.4
A
Hemorrhage (GroupA)
Medication (simvastatin, fasudil) (GroupA) 7CD
MRI (GroupA) 7CC
Delivery management (GroupA) 8CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
KRIT1 ⇔ 0000820 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
Moderate Actionability
Limited Actionability
CCM2 ⇔ 0000820 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Moderate Actionability
Limited Actionability
PDCD10 ⇔ 0000820 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
Moderate Actionability
Limited Actionability
2022/03/14
Released (Under revision)
1.1.3
A
Hemorrhage (GroupA)
Medication (simvastatin, fasudil) (GroupA) 7CD
MRI (GroupA) 7CC
Delivery management (GroupA) 8CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.1.3
A
Hemorrhage (GroupA)
Medication (simvastatin, fasudil) (GroupA) 7CD
MRI (GroupA) 7CC
Delivery management (GroupA) 8CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.1.2
A
Hemorrhage (GroupA)
Medication (simvastatin, fasudil) (GroupA) 7CD
MRI (GroupA) 7CC
Delivery management (GroupA) 8CC
Obsolete MONDO ID was updated
2021/09/16
Released
1.1.2
A
Hemorrhage (GroupA)
Medication (simvastatin, fasudil) (GroupA) 7CD
MRI (GroupA) 7CC
Delivery management (GroupA) 8CC
Obsolete MONDO ID was updated
2021/09/16
Released (Under revision)
1.1.1
A
Hemorrhage (GroupA)
Medication (simvastatin, fasudil) (GroupA) 7CD
MRI (GroupA) 7CC
Delivery management (GroupA) 8CC
2020/04/20
Released
1.1.1
A
Hemorrhage (GroupA)
Medication (simvastatin, fasudil) (GroupA) 7CD
MRI (GroupA) 7CC
Delivery management (GroupA) 8CC
2019/10/03
Released (Under revision)
1.1.0
A
Hemorrhage
Delivery management 8CC
MRI 7CC
Medication (simvastatin, fasudil) 7CD
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
A
Hemorrhage
Delivery management 8CC
MRI 7CC
Medication (simvastatin, fasudil) 7CD
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.1
A
Hemorrhage
Delivery management 8CC
MRI 7CC
Medication (simvastatin, fasudil) 7CD
Internal system migration related to score text replacement from E to N
2017/09/08
Released
1.0.0
A
Hemorrhage
Delivery management 8CC
MRI 7CC
Medication (simvastatin, fasudil) 7CD
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