ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Hereditary transthyretin-related amyloidosis
Gene/Gene Panel: TTR
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/01/06
Released
2.0.4
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
Updated MONDOs per obsoletion alert
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
TTR ⇔ 0007100 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Strong Actionability
Strong Actionability
2024/01/06
Released (Under revision)
2.0.3
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
TTR ⇔ 0017132 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Strong Actionability
Strong Actionability
2022/02/09
Released
2.0.3
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
TTR ⇔ 0017132 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
2.0.2
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
TTR ⇔ 0017132 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Strong Actionability
Strong Actionability
2021/12/02
Released
2.0.2
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
TTR ⇔ 0017132 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Strong Actionability
Strong Actionability
2021/12/02
Released (Under revision)
2.0.1
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
TTR ⇔ 0017132 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Strong Actionability
Strong Actionability
2021/03/29
Released
2.0.1
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
TTR ⇔ 0017132 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Strong Actionability
Strong Actionability
2021/01/04
Released (Under revision)
2.0.0
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
2020/06/01
Released
2.0.0
A
Morbidity and mortality from amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment (GroupA) 9CB
Morbidity and mortality from cardiac amyloidosis (GroupA)
Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis) (GroupA) 11CC
2020/05/04
Released (Under revision)
1.2.1
A
Severe visceral, neurological, or cardiac involvement (GroupA)
Liver transplant (GroupA) 7NB
Sudden cardiac death (GroupA)
Implantable cardiac device (GroupA) 6DB
Added MONDO IDs.
2020/04/22
Released
1.2.1
A
Severe visceral, neurological, or cardiac involvement (GroupA)
Liver transplant (GroupA) 7NB
Sudden cardiac death (GroupA)
Implantable cardiac device (GroupA) 6DB
Added MONDO IDs.
2020/04/22
Released (Under revision)
1.2.0
A
Severe visceral, neurological, or cardiac involvement (GroupA)
Liver transplant (GroupA) 7NB
Sudden cardiac death (GroupA)
Implantable cardiac device (GroupA) 6DB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Severe visceral, neurological, or cardiac involvement (GroupA)
Liver transplant (GroupA) 7NB
Sudden cardiac death (GroupA)
Implantable cardiac device (GroupA) 6DB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Severe visceral, neurological, or cardiac involvement
Liver transplant 7NB
Sudden cardiac death
Implantable cardiac device 6DB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.1
A
Severe visceral, neurological, or cardiac involvement
Liver transplant 7NB
Sudden cardiac death
Implantable cardiac device 6DB
Internal system migration related to score text replacement from E to N
2017/12/09
Released
1.0.0
A
Severe visceral, neurological, or cardiac involvement
Liver transplant 7EB
Sudden cardiac death
Implantable cardiac device 6DB
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