ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Catecholaminergic Polymorphic Ventricular Tachycardia
Gene/Gene Panel: RYR2
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
2.0.1
A
Sudden cardiac death (GroupA)
Avoidance of intense exercise (GroupA) 10CN
Antiarrhythmic therapy with beta-blockers and consideration for more intensive therapies as indicated (GroupA) 10CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RYR2 ⇔ 0011484 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1
Strong Actionability
Strong Actionability
CASQ2 ⇔ 0012762 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
Strong Actionability
Strong Actionability
TRDN ⇔ 0014191 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5
Strong Actionability
Strong Actionability
CALM1 ⇔ 0013966 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4
Strong Actionability
Moderate Actionability
CALM2 ⇔ 0017990 LONG QT SYNDROME 15; LQT15
Strong Actionability
Moderate Actionability
CALM3 ⇔ 0032915 LONG QT SYNDROME 16; LQT16
Strong Actionability
Moderate Actionability
TECRL ⇔ 0013529 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
2.0.0
A
Sudden cardiac death (GroupA)
Avoidance of intense exercise (GroupA) 10CN
Antiarrhythmic therapy with beta-blockers and consideration for more intensive therapies as indicated (GroupA) 10CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RYR2 ⇔ 0011484 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1
Strong Actionability
Strong Actionability
CASQ2 ⇔ 0012762 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
Strong Actionability
Strong Actionability
TRDN ⇔ 0014191 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5
Strong Actionability
Strong Actionability
CALM1 ⇔ 0013966 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4
Strong Actionability
Moderate Actionability
CALM2 ⇔ 0017990 LONG QT SYNDROME 15; LQT15
Strong Actionability
Moderate Actionability
CALM3 ⇔ 0032915 LONG QT SYNDROME 16; LQT16
Strong Actionability
Moderate Actionability
TECRL ⇔ 0013529 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
Strong Actionability
Strong Actionability
2021/09/20
Released
2.0.0
A
Sudden cardiac death (GroupA)
Avoidance of intense exercise (GroupA) 10CN
Antiarrhythmic therapy with beta-blockers and consideration for more intensive therapies as indicated (GroupA) 10CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RYR2 ⇔ 0011484 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1
Strong Actionability
Strong Actionability
CASQ2 ⇔ 0012762 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
Strong Actionability
Strong Actionability
TRDN ⇔ 0014191 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5
Strong Actionability
Strong Actionability
CALM1 ⇔ 0013966 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4
Strong Actionability
Moderate Actionability
CALM2 ⇔ 0017990 LONG QT SYNDROME 15; LQT15
Strong Actionability
Moderate Actionability
CALM3 ⇔ 0032915 LONG QT SYNDROME 16; LQT16
Strong Actionability
Moderate Actionability
TECRL ⇔ 0013529 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
Strong Actionability
Strong Actionability
2021/08/04
Released (Under revision)
1.2.1
A
Sudden cardiac death (GroupA)
Beta blockers (GroupA) 10NB
MONDO IDs added, scoring groups unadjusted.
2020/12/23
Released
1.2.1
A
Sudden cardiac death (GroupA)
Beta blockers (GroupA) 10NB
MONDO IDs added, scoring groups unadjusted.
2020/02/18
Released (Under revision)
1.2.0
A
Sudden cardiac death (GroupA)
Beta blockers (GroupA) 10NB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Sudden cardiac death (GroupA)
Beta blockers (GroupA) 10NB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Sudden cardiac death
Beta blockers 10NB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.3
A
Sudden cardiac death
Beta blockers 10NB
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.2
A
Sudden cardiac death
Beta blockers 10EB
2017/10/23
Released
1.0.1
A
Sudden cardiac death
Beta blockers 10EB
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