ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Phenylketonuria (PKU)
Gene/Gene Panel: PAH
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/06/28
Released
1.0.1
P
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
P
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
P
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
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