ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Systemic primary carnitine deficiency disease (SPCD)
Gene/Gene Panel: SLC22A5
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/09/19
Released
1.0.0
A
Morbidity and mortality from carnitine deficiency (GroupB)
Evaluation by a specialist to guide treatment with levocarnitine supplementation and an illness management protocol (GroupB) 9DC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC22A5 ⇔ 0008919 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
Moderate Actionability
Moderate Actionability
2022/07/14
In Preparation
N/A
We have begun assessment of the Adult context for this topic
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