CLINGEN ACTIONABILITY
Update History
Syndrome: Fabry Disease
Gene/Gene Panel: GLA
Updated By
Date
Status
Release
Outcome-Interventions
Notes
Genboree Administrator Account
2018/11/01
Released
2.0.1
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
Liz Webber
2018/06/18
Released
2.0.0
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
Genboree Administrator Account
2018/03/21
Released
1.0.2
(Under Revision)
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
Liz Webber
2018/01/11
Released
1.0.1
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
Elizabeth Clarke
2017/10/23
Released
1.0.0
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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