ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Homozygous Familial Hypercholesterolemia
Gene/Gene Panel: LDLR, APOB, PCSK9
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2023/05/03
Released
3.0.3
A
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 11DA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2023/03/30
Released (Under revision)
3.0.2
A
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 11DA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2022/02/09
Released
3.0.2
A
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 11DA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
3.0.1
A
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 11DA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2021/06/07
Released
3.0.1
A
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 11DA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2021/03/15
Released (Under revision)
3.0.0
A
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 11DA
2020/09/21
Released
3.0.0
A
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 11DA
2020/08/14
Released (Under revision)
2.1.2
A
Clinical cardiovascular events (GroupA)
Hypercholesterolemia treatment to FH appropriate goal (GroupA) 9CA
2020/04/22
Released
2.1.2
A
Clinical cardiovascular events (GroupA)
Hypercholesterolemia treatment to FH appropriate goal (GroupA) 9CA
2020/04/22
Released (Under revision)
2.1.1
A
Clinical cardiovascular events (GroupA)
Hypercholesterolemia treatment to FH appropriate goal (GroupA) 9CA
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
2.1.1
A
Clinical cardiovascular events (GroupA)
Hypercholesterolemia treatment to FH appropriate goal (GroupA) 9CA
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2019/10/03
Released (Under revision)
2.1.0
A
Clinical cardiovascular events
Hypercholesterolemia treatment to FH appropriate goal 9CA
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
2.1.0
A
Clinical cardiovascular events
Hypercholesterolemia treatment to FH appropriate goal 9CA
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
2.0.1
A
Clinical cardiovascular events
Hypercholesterolemia treatment to FH appropriate goal 9CA
Internal system migration related to score text replacement from E to N
2018/05/21
Released
2.0.0
A
Clinical cardiovascular events
Hypercholesterolemia treatment to FH appropriate goal 9CA
2018/05/08
Released (Under revision)
1.0.1
A
High cholesterol
LDL apheresis 10CB
Statins 11CA
2018/01/11
Released
1.0.1
A
High cholesterol
LDL apheresis 10CB
Statins 11CA
2017/10/26
Released
1.0.0
A
High cholesterol
LDL apheresis 10CB
Statins 11CA
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