ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Fabry Disease
Gene/Gene Panel: GLA
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.2
P
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 9CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GLA ⇔ 0010526 FABRY DISEASE
Moderate Actionability
Moderate Actionability
2022/02/09
Released (Under revision)
1.0.1
P
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 9CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GLA ⇔ 0010526 FABRY DISEASE
Moderate Actionability
Moderate Actionability
2021/05/05
Released
1.0.1
P
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 9CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GLA ⇔ 0010526 FABRY DISEASE
Moderate Actionability
Moderate Actionability
2021/05/05
Released (Under revision)
1.0.0
P
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 9CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
2020/06/03
Released
1.0.0
P
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 9CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CA
2020/04/21
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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