ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Systemic primary carnitine deficiency disease (SPCD)
Gene/Gene Panel: SLC22A5
Context: Pediatric
2022/08/03
Released
1.0.0
Morbidity and mortality from carnitine deficiency
(GroupB)
Evaluation by a specialist to guide treatment with levocarnitine supplementation and an illness management protocol
(GroupB)
10BA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC22A5
⇔
0008919 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
Strong Actionability
Strong Actionability
2022/07/14
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic