ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Homocystinuria due to Cystathionine Beta-Synthase Deficiency
Gene/Gene Panel: CBS
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/10/06
Released
1.0.0
P
CBS deficiency-related morbidity and mortality from elevated blood homocysteine levels (GroupA)
Evaluation and management by specialists to achieve and maintain target homocysteine levels with dietary and/or pharmacologic therapies (GroupA) 9CB
Morbidity and mortality from thromboembolism (GroupA)
Prophylactic anti-thrombotic measures when warranted (e.g., pregnancy, immobility) (GroupA) 8CB
Report and scoring pairs for CBS deficiency.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CBS ⇔ 0009352 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Moderate Actionability
Strong Actionability
2023/09/12
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
¤ Powered by BCM's Genboree.