ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Adult‑onset type II citrullinemia
Gene/Gene Panel:
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2024/12/09
Released
1.0.0
P
Morbidity due to citrin deficiency (GroupA)
Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, emergency planning, and possible transplant (GroupA) 8DC
New topic for pediatric AWG.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC25A13 ⇔ 0016602 CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Moderate Actionability
Moderate Actionability
2022/07/07
In Preparation
N/A
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