ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Fabry Disease
Gene/Gene Panel: GLA
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
3.0.3
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CD
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 6CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
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)
3.0.2
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CD
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 6CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GLA ⇔ 0010526 FABRY DISEASE
Moderate Actionability
Moderate Actionability
2022/01/14
Released
3.0.2
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CD
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 6CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GLA ⇔ 0010526 FABRY DISEASE
Moderate Actionability
Moderate Actionability
2022/01/14
Released (Under revision)
3.0.1
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CD
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 6CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GLA ⇔ 0010526 FABRY DISEASE
Moderate Actionability
Moderate Actionability
2021/06/21
Released
3.0.1
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CD
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 6CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GLA ⇔ 0010526 FABRY DISEASE
Moderate Actionability
Moderate Actionability
2021/06/21
Released (Under revision)
3.0.0
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CD
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 6CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
2020/06/15
Released
3.0.0
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 8CD
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 6CD
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (ERT) with agalsidase alpha or beta (GroupA) 7CD
2020/04/21
Released (Under revision)
2.2.1
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (GroupA) 7CA
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Pain crises (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Pain crises (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
2.2.1
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (GroupA) 7CA
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Pain crises (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Pain crises (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released (Under revision)
2.2.0
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (GroupA) 7CA
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Pain crises (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Pain crises (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
2.2.0
A
Cardiovascular disease (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cardiovascular disease (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cerebrovascular events (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Cerebrovascular events (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
End-stage renal disease (females) (GroupA)
Enzyme replacement therapy (GroupA) 7CA
End-stage renal disease (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Pain crises (females) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Pain crises (males) (GroupA)
Enzyme replacement therapy (GroupA) 8CA
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
2.1.0
A
Cardiovascular disease (females)
Enzyme replacement therapy 8CA
Cardiovascular disease (males)
Enzyme replacement therapy 8CA
Cerebrovascular events (females)
Enzyme replacement therapy 8CA
Cerebrovascular events (males)
Enzyme replacement therapy 8CA
End-stage renal disease (females)
Enzyme replacement therapy 7CA
End-stage renal disease (males)
Enzyme replacement therapy 8CA
Pain crises (females)
Enzyme replacement therapy 8CA
Pain crises (males)
Enzyme replacement therapy 8CA
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
2.0.1
A
Cardiovascular disease (females)
Enzyme replacement therapy 8CA
Cardiovascular disease (males)
Enzyme replacement therapy 8CA
Cerebrovascular events (females)
Enzyme replacement therapy 8CA
Cerebrovascular events (males)
Enzyme replacement therapy 8CA
End-stage renal disease (females)
Enzyme replacement therapy 7CA
End-stage renal disease (males)
Enzyme replacement therapy 8CA
Pain crises (females)
Enzyme replacement therapy 8CA
Pain crises (males)
Enzyme replacement therapy 8CA
Internal system migration related to score text replacement from E to N
2018/06/18
Released
2.0.0
A
Cardiovascular disease (females)
Enzyme replacement therapy 8CA
Cardiovascular disease (males)
Enzyme replacement therapy 8CA
Cerebrovascular events (females)
Enzyme replacement therapy 8CA
Cerebrovascular events (males)
Enzyme replacement therapy 8CA
End-stage renal disease (females)
Enzyme replacement therapy 7CA
End-stage renal disease (males)
Enzyme replacement therapy 8CA
Pain crises (females)
Enzyme replacement therapy 8CA
Pain crises (males)
Enzyme replacement therapy 8CA
2018/06/04
Released (Under revision)
1.0.2
A
End-stage organ disease
ERT (classic males) 8EA
ERT (females) 8EA
ERT (late-onset males) 8EA
Stroke
Aspirin (classic males) 7EB
Aspirin (females) 7EB
Aspirin (late-onset males) 7EB
2018/03/21
Released
1.0.2
A
End-stage organ disease
ERT (classic males) 8EA
ERT (females) 8EA
ERT (late-onset males) 8EA
Stroke
Aspirin (classic males) 7EB
Aspirin (females) 7EB
Aspirin (late-onset males) 7EB
2018/01/11
Released
1.0.1
A
End-stage organ disease
ERT (classic males) 8EA
ERT (females) 8EA
ERT (late-onset males) 8EA
Stroke prevention
Aspirin (classic males) 7EB
Aspirin (females) 7EB
Aspirin (late-onset males) 7EB
2017/10/23
Released
1.0.0
A
End-stage organ disease
ERT (classic males) 8EA
ERT (females) 8EA
ERT (late-onset males) 8EA
Stroke prevention
Aspirin (classic males) 7EB
Aspirin (females) 7EB
Aspirin (late-onset males) 7EB
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