ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Arrhythmogenic Right Ventricular Dysplasia
Gene/Gene Panel: PKP2, DSP, DSC2, TMEM43, DSG2
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.2
P
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 10CB
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
Strong Actionability
Strong Actionability
DSP ⇔ 0011831 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
Strong Actionability
Strong Actionability
DSC2 ⇔ 0012506 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
Strong Actionability
Strong Actionability
TMEM43 ⇔ 0011459 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
Strong Actionability
Strong Actionability
DSG2 ⇔ 0012434 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
Strong Actionability
Strong Actionability
JUP ⇔ 0012684 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
1.0.1
P
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PKP2 ⇔ 0012180 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
Strong Actionability
Strong Actionability
DSP ⇔ 0011831 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
Strong Actionability
Strong Actionability
DSC2 ⇔ 0012506 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
Strong Actionability
Strong Actionability
TMEM43 ⇔ 0011459 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
Strong Actionability
Strong Actionability
DSG2 ⇔ 0012434 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
Strong Actionability
Strong Actionability
JUP ⇔ 0012684 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
Strong Actionability
Strong Actionability
2021/05/04
Released
1.0.1
P
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PKP2 ⇔ 0012180 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
Strong Actionability
Strong Actionability
DSP ⇔ 0011831 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
Strong Actionability
Strong Actionability
DSC2 ⇔ 0012506 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
Strong Actionability
Strong Actionability
TMEM43 ⇔ 0011459 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
Strong Actionability
Strong Actionability
DSG2 ⇔ 0012434 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
Strong Actionability
Strong Actionability
JUP ⇔ 0012684 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
Strong Actionability
Strong Actionability
2021/03/15
Released (Under revision)
1.0.0
P
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 10CB
2020/08/19
Released
1.0.0
P
Sudden cardiac death (GroupA)
Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications (GroupA) 10CB
2020/07/06
In Preparation
N/A
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