ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Malignant Hyperthermia Susceptibility
Gene/Gene Panel: CACNA1S, RYR1
Context: Pediatric
2022/02/09
Released
1.0.1
Malignant hyperthermia event
(GroupA)
Avoidance of triggering anesthetics
(GroupA)
10CB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CACNA1S
⇔
0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
Strong Actionability
Strong Actionability
RYR1
⇔
0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
Strong Actionability
Strong Actionability
2022/02/09
Released
(Under revision)
1.0.0
Malignant hyperthermia event
(GroupA)
Avoidance of triggering anesthetics
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CACNA1S
⇔
0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
Strong Actionability
Strong Actionability
RYR1
⇔
0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
Strong Actionability
Strong Actionability
2021/04/07
Released
1.0.0
Malignant hyperthermia event
(GroupA)
Avoidance of triggering anesthetics
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CACNA1S
⇔
0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
Strong Actionability
Strong Actionability
RYR1
⇔
0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
Strong Actionability
Strong Actionability
2021/03/16
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic