ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Homocystinuria due to Cystathionine Beta-Synthase Deficiency
Gene/Gene Panel: CBS
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2023/10/06
Released
2.0.0
A
CBS deficiency-related morbidity and mortality from elevated blood homocysteine levels (GroupA)
Evaluation and management by specialists to achieve and maintain target homocysteine levels (GroupA) 10CC
Morbidity and mortality from thromboembolism (GroupA)
Prophylactic anti-thrombotic measures when warranted (e.g., pregnancy, immobility) (GroupA) 9DC
Updated scoring pairs and major updates in the report.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CBS ⇔ 0009352 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Strong Actionability
Moderate Actionability
2023/09/12
Released (Under revision)
1.2.3
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Non-Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 9CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.3
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Non-Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 9CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.2
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Non-Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 9CC
2020/04/29
Released
1.2.2
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Non-Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 9CC
2020/04/29
Released (Under revision)
1.2.1
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Non-Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 9CC
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
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Non-Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 9CC
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
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Non-Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 9CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Non-Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings) (GroupA)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 8CC
Pyridoxine Responsive: Thromboembolism (GroupA)
Prophylactic anti-coagulation in pregnancy (GroupA) 8CC
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) (GroupA) 9CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Pyridoxine Non-Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Prophylactic anti-coagulation in pregnancy 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Pyridoxine Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 9CC
Prophylactic anti-coagulation in pregnancy 8CC
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Pyridoxine Non-Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Prophylactic anti-coagulation in pregnancy 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Pyridoxine Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 9CC
Prophylactic anti-coagulation in pregnancy 8CC
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.1
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Pyridoxine Non-Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Prophylactic anti-coagulation in pregnancy 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Pyridoxine Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 9CC
Prophylactic anti-coagulation in pregnancy 8CC
2017/10/23
Released
1.0.0
A
Pyridoxine Non-Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Pyridoxine Non-Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Prophylactic anti-coagulation in pregnancy 8CC
Pyridoxine Responsive: Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 8CC
Pyridoxine Responsive: Thromboembolism
Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements) 9CC
Prophylactic anti-coagulation in pregnancy 8CC
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