ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Malignant Hyperthermia Susceptibility
Gene/Gene Panel: RYR1, CACNA1S
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
2.0.1
A
Malignant hyperthermia event (GroupA)
Avoidance of triggering anesthetics (GroupA) 11CB
Awareness of high-risk situations (GroupA) 8CD
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RYR1 ⇔ 0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
Strong Actionability
Strong Actionability
CACNA1S ⇔ 0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
2.0.0
A
Malignant hyperthermia event (GroupA)
Avoidance of triggering anesthetics (GroupA) 11CB
Awareness of high-risk situations (GroupA) 8CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RYR1 ⇔ 0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
Strong Actionability
Strong Actionability
CACNA1S ⇔ 0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Strong Actionability
Strong Actionability
2021/05/03
Released
2.0.0
A
Malignant hyperthermia event (GroupA)
Avoidance of triggering anesthetics (GroupA) 11CB
Awareness of high-risk situations (GroupA) 8CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RYR1 ⇔ 0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
Strong Actionability
Strong Actionability
CACNA1S ⇔ 0018493 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
Strong Actionability
Strong Actionability
2021/03/16
Released (Under revision)
1.1.2
A
Morbidity from malignant hyperthermia event (GroupA)
Avoidance of triggering anesthetics (GroupA) 10DB
2020/04/22
Released
1.1.2
A
Morbidity from malignant hyperthermia event (GroupA)
Avoidance of triggering anesthetics (GroupA) 10DB
2020/04/22
Released (Under revision)
1.1.1
A
Morbidity from malignant hyperthermia event (GroupA)
Avoidance of triggering anesthetics (GroupA) 10DB
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
1.1.1
A
Morbidity from malignant hyperthermia event (GroupA)
Avoidance of triggering anesthetics (GroupA) 10DB
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2019/10/03
Released (Under revision)
1.1.0
A
Morbidity from malignant hyperthermia event
Avoidance of triggering anesthetics 10DB
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
A
Morbidity from malignant hyperthermia event
Avoidance of triggering anesthetics 10DB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.1
A
Morbidity from malignant hyperthermia event
Avoidance of triggering anesthetics 10DB
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.0
A
Morbidity from malignant hyperthermia event
Avoidance of triggering anesthetics 10DB
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