ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Arrhythmogenic Right Ventricular Dysplasia
Gene/Gene Panel: PKP2, DSP, DSC2, TMEM43, DSG2
Context: Adult
Date
Status
Outcomes-Interventions
Notes
2022/02/09
Released
2.0.2
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 9CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PKP2 0012180 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
Moderate Actionability
Moderate Actionability
DSP 0011831 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
Moderate Actionability
Moderate Actionability
DSC2 0012506 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
Moderate Actionability
Moderate Actionability
TMEM43 0011459 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
Moderate Actionability
Moderate Actionability
DSG2 0012434 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
Moderate Actionability
Moderate Actionability
JUP 0012684 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
Moderate Actionability
Moderate Actionability
2022/02/09
Released (Under revision)
2.0.1
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PKP2 0012180 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
Moderate Actionability
Moderate Actionability
DSP 0011831 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
Moderate Actionability
Moderate Actionability
DSC2 0012506 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
Moderate Actionability
Moderate Actionability
TMEM43 0011459 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
Moderate Actionability
Moderate Actionability
DSG2 0012434 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
Moderate Actionability
Moderate Actionability
JUP 0012684 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
Moderate Actionability
Moderate Actionability
2021/03/29
Released
2.0.1
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PKP2 0012180 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
Moderate Actionability
Moderate Actionability
DSP 0011831 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
Moderate Actionability
Moderate Actionability
DSC2 0012506 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
Moderate Actionability
Moderate Actionability
TMEM43 0011459 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
Moderate Actionability
Moderate Actionability
DSG2 0012434 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
Moderate Actionability
Moderate Actionability
JUP 0012684 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
Moderate Actionability
Moderate Actionability
2021/01/04
Released (Under revision)
2.0.0
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 9CA
2020/07/21
Released
2.0.0
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 9CA
2020/07/06
Released (Under revision)
1.1.1
Sudden cardiac death (GroupA)
ICD implantation (GroupA) 9CA
Anti-arrhythmic therapy (GroupA) 8CC
2020/04/29
Released
1.1.1
Sudden cardiac death (GroupA)
ICD implantation (GroupA) 9CA
Anti-arrhythmic therapy (GroupA) 8CC
2019/10/03
Released (Under revision)
1.1.0
Sudden cardiac death
Anti-arrhythmic therapy 8CC
ICD implantation 9CA
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
Sudden cardiac death
Anti-arrhythmic therapy 8CC
ICD implantation 9CA
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
Sudden cardiac death
Anti-arrhythmic therapy 8CC
ICD implantation 9CA
Internal system migration related to score text replacement from E to N
2017/10/23
Released
1.0.1
Sudden cardiac death
Anti-arrhythmic therapy 8CC
ICD implantation 9CA
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