ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Disorders of the trifunctional protein complex
Gene/Gene Panel: HADHA, HADHB
Context: Pediatric
2022/02/09
Released
1.0.1
Morbidity associated with metabolic decompensation
(GroupA)
Triheptanoin treatment
(GroupA)
9CC
Metabolic management (dietary management and illness protocols)
(GroupA)
9CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HADHA
⇔
0012172 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
Moderate Actionability
Moderate Actionability
HADHA
⇔
0012173 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
Moderate Actionability
Moderate Actionability
HADHB
⇔
0012172 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
Moderate Actionability
Moderate Actionability
2022/02/09
Released
(Under revision)
1.0.0
Morbidity associated with metabolic decompensation
(GroupA)
Triheptanoin treatment
(GroupA)
9CC
Metabolic management (dietary management and illness protocols)
(GroupA)
9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HADHA
⇔
0012172 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
Moderate Actionability
Moderate Actionability
HADHA
⇔
0012173 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
Moderate Actionability
Moderate Actionability
HADHB
⇔
0012172 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
Moderate Actionability
Moderate Actionability
2021/09/15
Released
1.0.0
Morbidity associated with metabolic decompensation
(GroupA)
Triheptanoin treatment
(GroupA)
9CC
Metabolic management (dietary management and illness protocols)
(GroupA)
9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HADHA
⇔
0012172 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
Moderate Actionability
Moderate Actionability
HADHA
⇔
0012173 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
Moderate Actionability
Moderate Actionability
HADHB
⇔
0012172 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
Moderate Actionability
Moderate Actionability
2021/08/19
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic