ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Phenylketonuria (PKU)
Gene/Gene Panel: PAH
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2023/06/05
Released
1.2.4
A
Adverse pregnancy outcomes (GroupA)
Pre-conception and pregnancy management by specialists to achieve target phenylalanine levels with dietary and/or pharmacologic therapies (GroupA) 7CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PAH ⇔ 0009861 PHENYLKETONURIA; PKU
Limited Actionability
Limited Actionability
2022/10/18
Released (Under revision)
1.2.3
A
Fetal teratogenicity (females only) (GroupA)
Pregnancy management of PHE levels (GroupA) 10NA
Suboptimal plasma PHE levels (GroupA)
Optimal dietary and medical management to achieve goal PHE levels (GroupA) 10CB
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.3
A
Fetal teratogenicity (females only) (GroupA)
Pregnancy management of PHE levels (GroupA) 10NA
Suboptimal plasma PHE levels (GroupA)
Optimal dietary and medical management to achieve goal PHE levels (GroupA) 10CB
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.2
A
Fetal teratogenicity (females only) (GroupA)
Pregnancy management of PHE levels (GroupA) 10NA
Suboptimal plasma PHE levels (GroupA)
Optimal dietary and medical management to achieve goal PHE levels (GroupA) 10CB
2020/04/29
Released
1.2.2
A
Fetal teratogenicity (females only) (GroupA)
Pregnancy management of PHE levels (GroupA) 10NA
Suboptimal plasma PHE levels (GroupA)
Optimal dietary and medical management to achieve goal PHE levels (GroupA) 10CB
2020/04/29
Released (Under revision)
1.2.1
A
Fetal teratogenicity (females only) (GroupA)
Pregnancy management of PHE levels (GroupA) 10NA
Suboptimal plasma PHE levels (GroupA)
Optimal dietary and medical management to achieve goal PHE levels (GroupA) 10CB
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
1.2.1
A
Fetal teratogenicity (females only) (GroupA)
Pregnancy management of PHE levels (GroupA) 10NA
Suboptimal plasma PHE levels (GroupA)
Optimal dietary and medical management to achieve goal PHE levels (GroupA) 10CB
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released (Under revision)
1.2.0
A
Fetal teratogenicity (females only) (GroupA)
Pregnancy management of PHE levels (GroupA) 10NA
Suboptimal plasma PHE levels (GroupA)
Optimal dietary and medical management to achieve goal PHE levels (GroupA) 10CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Fetal teratogenicity (females only) (GroupA)
Pregnancy management of PHE levels (GroupA) 10NA
Suboptimal plasma PHE levels (GroupA)
Optimal dietary and medical management to achieve goal PHE levels (GroupA) 10CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Fetal teratogenicity (females only)
Pregnancy management of PHE levels 10NA
Suboptimal plasma PHE levels
Optimal dietary and medical management to achieve goal PHE levels 10CB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.1
A
Fetal teratogenicity (females only)
Pregnancy management of PHE levels 10NA
Suboptimal plasma PHE levels
Optimal dietary and medical management to achieve goal PHE levels 10CB
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.0
A
Fetal teratogenicity (females only)
Pregnancy management of PHE levels 10EA
Suboptimal plasma PHE levels
Optimal dietary and medical management to achieve goal PHE levels 10CB
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