ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Alpha-1 Antitrypsin Deficiency
Gene/Gene Panel: SERPINA1
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/12/20
Released
2.0.0
A
Morbidity and mortality from liver disease (GroupA)
Surveillance by specialist to guide management including consideration of liver transplant (GroupA) 8AA
Morbidity and mortality from lung disease (GroupA)
AAT augmentation therapy (GroupA) 8DA
Avoidance of environmental exposures including cigarette smoke (GroupA) 9DC
Significant updates since last report in 2016
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SERPINA1 ⇔ 0013282 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD
Moderate Actionability
Moderate Actionability
2024/11/23
Released (Under revision)
1.2.2
A
COPD (GroupA)
Smoking cessation (GroupA) 10CA
Emphysema (GroupA)
A1AT augmentation therapy (GroupA) 7CD
Liver disease (GroupA)
Limit alcohol consumption (GroupA) 9CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.2
A
COPD (GroupA)
Smoking cessation (GroupA) 10CA
Emphysema (GroupA)
A1AT augmentation therapy (GroupA) 7CD
Liver disease (GroupA)
Limit alcohol consumption (GroupA) 9CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.1
A
COPD (GroupA)
Smoking cessation (GroupA) 10CA
Emphysema (GroupA)
A1AT augmentation therapy (GroupA) 7CD
Liver disease (GroupA)
Limit alcohol consumption (GroupA) 9CC
MONDO IDs added
2020/05/02
Released
1.2.1
A
COPD (GroupA)
Smoking cessation (GroupA) 10CA
Emphysema (GroupA)
A1AT augmentation therapy (GroupA) 7CD
Liver disease (GroupA)
Limit alcohol consumption (GroupA) 9CC
MONDO IDs added
2020/05/02
Released (Under revision)
1.2.0
A
COPD (GroupA)
Smoking cessation (GroupA) 10CA
Emphysema (GroupA)
A1AT augmentation therapy (GroupA) 7CD
Liver disease (GroupA)
Limit alcohol consumption (GroupA) 9CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
COPD (GroupA)
Smoking cessation (GroupA) 10CA
Emphysema (GroupA)
A1AT augmentation therapy (GroupA) 7CD
Liver disease (GroupA)
Limit alcohol consumption (GroupA) 9CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
COPD
Smoking cessation 10CA
Emphysema
A1AT augmentation therapy 7CD
Liver disease
Limit alcohol consumption 9CC
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.3
A
COPD
Smoking cessation 10CA
Emphysema
A1AT augmentation therapy 7CD
Liver disease
Limit alcohol consumption 9CC
Internal system migration related to score text replacement from E to N
2018/05/02
Released
1.0.2
A
COPD
Smoking cessation 10CA
Emphysema
A1AT augmentation therapy 7CD
Liver disease
Limit alcohol consumption 9CC
2018/05/02
Released (Under revision)
1.0.1
A
COPD
Smoking cessation 10CA
Emphysema
A1AT augmentation therapy 7CD
Identify those at risk to and institute interventions appropriate to severity
Serum A1AT measurement 11CC
Liver disease
Limit alcohol consumption 9CC
2018/01/11
Released
1.0.1
A
COPD
Smoking cessation 10CA
Emphysema
A1AT augmentation therapy 7CD
Identify those at risk to and institute interventions appropriate to severity
Serum A1AT measurement 11CC
Liver disease
Limit alcohol consumption 9CC
2017/10/23
Released
1.0.0
A
COPD
Smoking cessation 10CA
Emphysema
A1AT augmentation therapy 7CD
Identify those at risk to and institute interventions appropriate to severity
Serum A1AT measurement 11CC
Liver disease
Limit alcohol consumption 9CC
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