ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Dopa-Responsive Dystonia
Gene/Gene Panel: GCH1
Context: Pediatric
2025/05/09
Released
1.0.0
Neuromuscular dysfunction
(GroupA)
Surveillance by specialist to guide levodopa and decarboxylase inhibitor therapy
(GroupA)
11CC
New report in the pediatric context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GCH1
⇔
0007495 DYSTONIA, DOPA-RESPONSIVE; DRD
Strong Actionability
Strong Actionability
2023/05/03
In Preparation
N/A