ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Myofibrillar Myopathy
Gene/Gene Panel: DES, BAG3, FLNC
Context: Adult
Date
Status
Outcomes-Interventions
Notes
2022/07/07
Released (Under revision)
1.1.3
Clinically significant cardiac involvement (DES) (GroupA)
ICD implantation (GroupA) 9AC
Cardiology management (GroupA) 10AD
Clinically significant cardiac involvement (FLNC) (GroupB)
ICD implantation (GroupB) 8AD
Cardiology management (GroupB) 9AD
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DES 0011076 MYOPATHY, MYOFIBRILLAR, 1; MFM1
Strong Actionability
Moderate Actionability
BAG3 0013061 MYOPATHY, MYOFIBRILLAR, 6; MFM6
N/A - Insufficient evidence: expert review
N/A - Insufficient evidence: expert review
FLNC 0012289 MYOPATHY, MYOFIBRILLAR, 5; MFM5
Moderate Actionability
Moderate Actionability
2022/02/09
Released
1.1.3
Clinically significant cardiac involvement (DES) (GroupA)
ICD implantation (GroupA) 9AC
Cardiology management (GroupA) 10AD
Clinically significant cardiac involvement (FLNC) (GroupB)
ICD implantation (GroupB) 8AD
Cardiology management (GroupB) 9AD
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DES 0011076 MYOPATHY, MYOFIBRILLAR, 1; MFM1
Strong Actionability
Moderate Actionability
BAG3 0013061 MYOPATHY, MYOFIBRILLAR, 6; MFM6
N/A - Insufficient evidence: expert review
N/A - Insufficient evidence: expert review
FLNC 0012289 MYOPATHY, MYOFIBRILLAR, 5; MFM5
Moderate Actionability
Moderate Actionability
2022/02/09
Released (Under revision)
1.1.2
Clinically significant cardiac involvement (DES) (GroupA)
ICD implantation (GroupA) 9AC
Cardiology management (GroupA) 10AD
Clinically significant cardiac involvement (FLNC) (GroupB)
ICD implantation (GroupB) 8AD
Cardiology management (GroupB) 9AD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DES 0011076 MYOPATHY, MYOFIBRILLAR, 1; MFM1
Strong Actionability
Moderate Actionability
BAG3 0013061 MYOPATHY, MYOFIBRILLAR, 6; MFM6
N/A - Insufficient evidence: expert review
N/A - Insufficient evidence: expert review
FLNC 0012289 MYOPATHY, MYOFIBRILLAR, 5; MFM5
Moderate Actionability
Moderate Actionability
2021/10/18
Released
1.1.2
Clinically significant cardiac involvement (DES) (GroupA)
ICD implantation (GroupA) 9AC
Cardiology management (GroupA) 10AD
Clinically significant cardiac involvement (FLNC) (GroupB)
ICD implantation (GroupB) 8AD
Cardiology management (GroupB) 9AD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DES 0011076 MYOPATHY, MYOFIBRILLAR, 1; MFM1
Strong Actionability
Moderate Actionability
BAG3 0013061 MYOPATHY, MYOFIBRILLAR, 6; MFM6
N/A - Insufficient evidence: expert review
N/A - Insufficient evidence: expert review
FLNC 0012289 MYOPATHY, MYOFIBRILLAR, 5; MFM5
Moderate Actionability
Moderate Actionability
2021/09/20
Released (Under revision)
1.1.1
Clinically significant cardiac involvement (DES) (GroupA)
ICD implantation (GroupA) 9AC
Cardiology management (GroupA) 10AD
Clinically significant cardiac involvement (FLNC) (GroupB)
ICD implantation (GroupB) 8AD
Cardiology management (GroupB) 9AD
2020/04/22
Released
1.1.1
Clinically significant cardiac involvement (DES) (GroupA)
ICD implantation (GroupA) 9AC
Cardiology management (GroupA) 10AD
Clinically significant cardiac involvement (FLNC) (GroupB)
ICD implantation (GroupB) 8AD
Cardiology management (GroupB) 9AD
2019/10/03
Released (Under revision)
1.1.0
Clinically significant cardiac involvement (DES)
Cardiology management 10AD
ICD implantation 9AC
Clinically significant cardiac involvement (FLNC)
Cardiology management 9AD
ICD implantation 8AD
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
Clinically significant cardiac involvement (DES)
Cardiology management 10AD
ICD implantation 9AC
Clinically significant cardiac involvement (FLNC)
Cardiology management 9AD
ICD implantation 8AD
Internal system migration related to merging adult and pediatric contexts.
2019/02/14
Released
1.0.0
Clinically significant cardiac involvement (DES)
Cardiology management 10AD
ICD implantation 9AC
Clinically significant cardiac involvement (FLNC)
Cardiology management 9AD
ICD implantation 8AD
2018/11/30
In Preparation
N/A
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