ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Argininosuccinate Lyase Deficiency
Gene/Gene Panel: ASL
Context: Pediatric
2022/02/09
Released
1.0.1
Morbidity and mortality due to hyperammonemic crises
(GroupA)
Referral to specialty team to guide dietary management and arginine and emergency management to mitigate hyperammonemic crises
(GroupA)
9NC
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ASL
⇔
0008815 ARGININOSUCCINIC ACIDURIA
Moderate Actionability
Moderate Actionability
2022/02/09
Released
(Under revision)
1.0.0
Morbidity and mortality due to hyperammonemic crises
(GroupA)
Referral to specialty team to guide dietary management and arginine and emergency management to mitigate hyperammonemic crises
(GroupA)
9NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ASL
⇔
0008815 ARGININOSUCCINIC ACIDURIA
Moderate Actionability
Moderate Actionability
2021/08/19
Released
1.0.0
Morbidity and mortality due to hyperammonemic crises
(GroupA)
Referral to specialty team to guide dietary management and arginine and emergency management to mitigate hyperammonemic crises
(GroupA)
9NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ASL
⇔
0008815 ARGININOSUCCINIC ACIDURIA
Moderate Actionability
Moderate Actionability
2021/08/04
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic