Update History
Condition: Arrhythmogenic Right Ventricular Dysplasia
Gene/Gene Panel: PKP2, DSP, DSC2, TMEM43, DSG2
Context: Adult
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