ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Glycogen Storage Disease 2
Gene/Gene Panel: GAA
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/03/24
Released
1.2.6
A
Morbidity and mortality due to acid alpha-glucosidase deficiency (GroupA)
Evaluation by specialists to guide management including enzyme replacement therapy (GroupA) 9CA
System migration to fix the sem versioning
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GAA ⇔ 0009290 GLYCOGEN STORAGE DISEASE II; GSD2
Moderate Actionability
Moderate Actionability
2024/03/24
Released (Under revision)
A
Morbidity and mortality due to acid alpha-glucosidase deficiency (GroupA)
Evaluation by specialists to guide management including enzyme replacement therapy (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GAA ⇔ 0009290 GLYCOGEN STORAGE DISEASE II; GSD2
Moderate Actionability
Moderate Actionability
2023/07/28
Released
A
Morbidity and mortality due to acid alpha-glucosidase deficiency (GroupA)
Evaluation by specialists to guide management including enzyme replacement therapy (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GAA ⇔ 0009290 GLYCOGEN STORAGE DISEASE II; GSD2
Moderate Actionability
Moderate Actionability
2023/01/27
Released (Under revision)
1.2.4
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.4
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.3
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
2020/04/29
Released
1.2.3
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
2020/04/29
Released (Under revision)
1.2.2
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
1.2.2
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released (Under revision)
1.2.1
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
1.2.1
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released (Under revision)
1.2.0
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Impaired pulmonary function (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Musculoskeletal morbidity (GroupA)
Enzyme replacement therapy (GroupA) 9CB
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) (GroupA) 9CB
Severe or life-threatening infections (GroupA)
Vaccination and aggressive prevention/treatment of infections (GroupA) 6DD
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Impaired pulmonary function
Enzyme replacement therapy 9CB
Musculoskeletal morbidity
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) 9CB
Enzyme replacement therapy 9CB
Severe or life-threatening infections
Vaccination and aggressive prevention/treatment of infections 6DD
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Impaired pulmonary function
Enzyme replacement therapy 9CB
Musculoskeletal morbidity
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) 9CB
Enzyme replacement therapy 9CB
Severe or life-threatening infections
Vaccination and aggressive prevention/treatment of infections 6DD
Internal system migration related to score text replacement from E to N
2018/01/10
Released
1.0.1
A
Impaired pulmonary function
Enzyme replacement therapy 9CB
Musculoskeletal morbidity
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) 9CB
Enzyme replacement therapy 9CB
Severe or life-threatening infections
Vaccination and aggressive prevention/treatment of infections 6DD
2017/09/08
Released
1.0.0
A
Impaired pulmonary function
Enzyme replacement therapy 9CB
Musculoskeletal morbidity
Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.) 9CB
Enzyme replacement therapy 9CB
Severe or life-threatening infections
Vaccination and aggressive prevention/treatment of infections 6DD
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