ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Carbamoylphosphate synthetase 1 (CPS1) deficiency
Gene/Gene Panel: CPS1
Context: Adult
2024/03/24
Released
1.0.2
Morbidity and mortality due to hyperammonemic crises
(GroupA)
Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises
(GroupA)
9DD
System migration to fix the sem versioning
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPS1
⇔
0009376 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
Moderate Actionability
Moderate Actionability
2024/03/24
Released
(Under revision)
Morbidity and mortality due to hyperammonemic crises
(GroupA)
Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises
(GroupA)
9DD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPS1
⇔
0009376 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
Moderate Actionability
Moderate Actionability
2022/07/20
Released
Morbidity and mortality due to hyperammonemic crises
(GroupA)
Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises
(GroupA)
9DD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPS1
⇔
0009376 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
Moderate Actionability
Moderate Actionability
2022/07/20
Released
(Under revision)
1.0.0
Morbidity and mortality due to hyperammonemic crises
(GroupA)
Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises
(GroupA)
9DD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPS1
⇔
0009376 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
Moderate Actionability
Moderate Actionability
2022/07/18
Released
1.0.0
Morbidity and mortality due to hyperammonemic crises
(GroupA)
Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises
(GroupA)
9DD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPS1
⇔
0009376 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
Moderate Actionability
Moderate Actionability
2022/06/08
In Preparation
N/A
We have begun assessment of the Adult context for this topic