ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Carnitine palmitoyltransferase II deficiency
Gene/Gene Panel: CPT2
Context: Pediatric
2022/02/09
Released
1.0.2
Morbidity and mortality associated with metabolic decompensation
(GroupA)
Metabolic management (dietary management and illness protocols)
(GroupA)
8CC
Triheptanoin treatment
(GroupA)
8CN
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
Moderate Actionability
Moderate Actionability
2022/02/09
Released
(Under revision)
1.0.1
Morbidity and mortality associated with metabolic decompensation
(GroupA)
Metabolic management (dietary management and illness protocols)
(GroupA)
8CC
Triheptanoin treatment
(GroupA)
8CN
This release fixes a data system issue.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
Moderate Actionability
Moderate Actionability
2021/08/12
Released
1.0.1
Morbidity and mortality associated with metabolic decompensation
(GroupA)
Metabolic management (dietary management and illness protocols)
(GroupA)
8CC
Triheptanoin treatment
(GroupA)
8CN
This release fixes a data system issue.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
Moderate Actionability
Moderate Actionability
2021/07/27
Released
(Under revision)
1.0.0
Morbidity and mortality associated with metabolic decompensation
(GroupA)
Metabolic management (dietary management and illness protocols)
(GroupA)
8CC
Triheptanoin treatment
(GroupA)
8CN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
Moderate Actionability
Moderate Actionability
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Moderate Actionability
N/A - Insufficient evidence: expert review
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Moderate Actionability
N/A - Insufficient evidence: expert review
2021/05/10
Released
1.0.0
Morbidity and mortality associated with metabolic decompensation
(GroupA)
Metabolic management (dietary management and illness protocols)
(GroupA)
8CC
Triheptanoin treatment
(GroupA)
8CN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
Moderate Actionability
Moderate Actionability
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Moderate Actionability
N/A - Insufficient evidence: expert review
CPT2
⇔
0015515 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Moderate Actionability
N/A - Insufficient evidence: expert review
2021/04/08
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic