ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Dopa-Responsive Dystonia
Gene/Gene Panel: GCH1
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2025/05/09
Released
2.0.0
A
Neuromuscular dysfunction (GroupA)
Surveillance by specialist to guide levodopa and decarboxylase inhibitor therapy (GroupA) 10CC
Updated report, scoring pairs and assertion.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GCH1 ⇔ 0007495 DYSTONIA, DOPA-RESPONSIVE; DRD
Strong Actionability
Strong Actionability
2023/05/03
Released (Under revision)
1.2.3
A
Neuromuscular dysfunction (GroupA)
Avoidance of oral contraceptives (GroupA) 9CC
Regular examinations and surveillance by a movement disorder specialist (GroupA) 8CD
Levodopa therapy (GroupA) 11CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GCH1 ⇔ 0007495 DYSTONIA, DOPA-RESPONSIVE; DRD
Strong Actionability
Strong Actionability
2022/05/16
Released
1.2.3
A
Neuromuscular dysfunction (GroupA)
Avoidance of oral contraceptives (GroupA) 9CC
Regular examinations and surveillance by a movement disorder specialist (GroupA) 8CD
Levodopa therapy (GroupA) 11CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GCH1 ⇔ 0007495 DYSTONIA, DOPA-RESPONSIVE; DRD
Strong Actionability
Strong Actionability
2022/02/14
Released (Under revision)
1.2.2
A
Neuromuscular dysfunction (GroupA)
Avoidance of oral contraceptives (GroupA) 9CC
Regular examinations and surveillance by a movement disorder specialist (GroupA) 8CD
Levodopa therapy (GroupA) 11CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.2
A
Neuromuscular dysfunction (GroupA)
Avoidance of oral contraceptives (GroupA) 9CC
Regular examinations and surveillance by a movement disorder specialist (GroupA) 8CD
Levodopa therapy (GroupA) 11CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.1
A
Neuromuscular dysfunction (GroupA)
Avoidance of oral contraceptives (GroupA) 9CC
Regular examinations and surveillance by a movement disorder specialist (GroupA) 8CD
Levodopa therapy (GroupA) 11CC
MONDO IDs added
2020/05/02
Released
1.2.1
A
Neuromuscular dysfunction (GroupA)
Avoidance of oral contraceptives (GroupA) 9CC
Regular examinations and surveillance by a movement disorder specialist (GroupA) 8CD
Levodopa therapy (GroupA) 11CC
MONDO IDs added
2020/05/02
Released (Under revision)
1.2.0
A
Neuromuscular dysfunction (GroupA)
Avoidance of oral contraceptives (GroupA) 9CC
Regular examinations and surveillance by a movement disorder specialist (GroupA) 8CD
Levodopa therapy (GroupA) 11CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Neuromuscular dysfunction (GroupA)
Avoidance of oral contraceptives (GroupA) 9CC
Regular examinations and surveillance by a movement disorder specialist (GroupA) 8CD
Levodopa therapy (GroupA) 11CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Neuromuscular dysfunction
Avoidance of oral contraceptives 9CC
Levodopa therapy 11CC
Regular examinations and surveillance by a movement disorder specialist 8CD
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Neuromuscular dysfunction
Avoidance of oral contraceptives 9CC
Levodopa therapy 11CC
Regular examinations and surveillance by a movement disorder specialist 8CD
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.1
A
Neuromuscular dysfunction
Avoidance of oral contraceptives 9CC
Levodopa therapy 11CC
Regular examinations and surveillance by a movement disorder specialist 8CD
2017/10/06
Released
1.0.0
A
Neuromuscular dysfunction
Avoidance of oral contraceptives 9CC
Levodopa therapy 11CC
Regular examinations and surveillance by a movement disorder specialist 8CD
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