ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Phenylketonuria (PKU)
Gene/Gene Panel: PAH
Context: Pediatric
2023/06/28
Released
1.0.1
PAH deficiency-related morbidity from elevated blood phenylalanine levels
(GroupA)
Evaluation and management by specialists to achieve target phenylalanine levels with dietary and/or pharmacologic therapies
(GroupA)
10AA
Internal system migration to amend the actionability rationale with respect to the assertion, definitive actionability.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PAH
⇔
0009861 PHENYLKETONURIA; PKU
Strong Actionability
Definitive Actionability
2023/06/28
Released
(Under revision)
1.0.0
PAH deficiency-related morbidity from elevated blood phenylalanine levels
(GroupA)
Evaluation and management by specialists to achieve target phenylalanine levels with dietary and/or pharmacologic therapies
(GroupA)
10AA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PAH
⇔
0009861 PHENYLKETONURIA; PKU
Strong Actionability
Definitive Actionability
2023/05/18
Released
1.0.0
PAH deficiency-related morbidity from elevated blood phenylalanine levels
(GroupA)
Evaluation and management by specialists to achieve target phenylalanine levels with dietary and/or pharmacologic therapies
(GroupA)
10AA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PAH
⇔
0009861 PHENYLKETONURIA; PKU
Strong Actionability
Definitive Actionability
2022/10/18
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic