ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Ornithine translocase deficiency
Gene/Gene Panel: SLC25A15
Context: Adult
2024/07/10
Released
1.0.1
Morbidity due to ornithine translocase deficiency
(GroupA)
Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, and emergency planning
(GroupA)
6DC
No change to report or scores.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC25A15
⇔
0009393 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; HHHS
Limited Actionability
Moderate Actionability
2024/07/10
Released
(Under revision)
1.0.0
Morbidity due to ornithine translocase deficiency
(GroupA)
Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, and emergency planning
(GroupA)
6DC
New report
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC25A15
⇔
0009393 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; HHHS
Limited Actionability
Moderate Actionability
2024/06/06
Released
1.0.0
Morbidity due to ornithine translocase deficiency
(GroupA)
Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, and emergency planning
(GroupA)
6DC
New report
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC25A15
⇔
0009393 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; HHHS
Limited Actionability
Moderate Actionability
2022/07/28
In Preparation
N/A
We have begun assessment of the Adult context for this topic