ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: SHORT syndrome
Gene/Gene Panel: PIK3R1
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.2
A
Morbidity due to underlying lipodystrophy-related disorders of glucose and lipid metabolism (GroupA)
Optimal metabolic control (including management of hyperglycemia, hyperlipidemia, and lipodystrophy) (GroupA) 9CC
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PIK3R1 ⇔ 0010026 SHORT SYNDROME
Moderate Actionability
Moderate Actionability
2022/02/09
Released (Under revision)
1.0.1
A
Morbidity due to underlying lipodystrophy-related disorders of glucose and lipid metabolism (GroupA)
Optimal metabolic control (including management of hyperglycemia, hyperlipidemia, and lipodystrophy) (GroupA) 9CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PIK3R1 ⇔ 0010026 SHORT SYNDROME
Moderate Actionability
Moderate Actionability
2021/03/29
Released
1.0.1
A
Morbidity due to underlying lipodystrophy-related disorders of glucose and lipid metabolism (GroupA)
Optimal metabolic control (including management of hyperglycemia, hyperlipidemia, and lipodystrophy) (GroupA) 9CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PIK3R1 ⇔ 0010026 SHORT SYNDROME
Moderate Actionability
Moderate Actionability
2021/03/29
Released (Under revision)
1.0.0
A
Morbidity due to underlying lipodystrophy-related disorders of glucose and lipid metabolism (GroupA)
Optimal metabolic control (including management of hyperglycemia, hyperlipidemia, and lipodystrophy) (GroupA) 9CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PIK3R1 ⇔ 0010026 SHORT SYNDROME
Moderate Actionability
Moderate Actionability
2021/03/29
Released
1.0.0
A
Morbidity due to underlying lipodystrophy-related disorders of glucose and lipid metabolism (GroupA)
Optimal metabolic control (including management of hyperglycemia, hyperlipidemia, and lipodystrophy) (GroupA) 9CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PIK3R1 ⇔ 0010026 SHORT SYNDROME
Moderate Actionability
Moderate Actionability
2021/02/02
In Preparation
N/A
We have begun assessment of the Adult context for this topic
¤ Powered by BCM's Genboree.