ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: SHORT syndrome
Gene/Gene Panel: PIK3R1
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.2
P
Morbidity due to disorders of glucose and lipid metabolism (GroupA)
Metabolic management (includes monitoring/treatment of hyperglycemia and hyperlipidemia) (GroupA) 9CC
Morbidity due to sensory impairment (GroupA)
Referral to a multidisciplinary care team, if available, and regular audiologic and ophthalmologic evaluations to optimize hearing and vision (GroupA) 9NC
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
P
Morbidity due to disorders of glucose and lipid metabolism (GroupA)
Metabolic management (includes monitoring/treatment of hyperglycemia and hyperlipidemia) (GroupA) 9CC
Morbidity due to sensory impairment (GroupA)
Referral to a multidisciplinary care team, if available, and regular audiologic and ophthalmologic evaluations to optimize hearing and vision (GroupA) 9NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PIK3R1 ⇔ 0010026 SHORT SYNDROME
Moderate Actionability
Moderate Actionability
2021/03/29
Released
1.0.1
P
Morbidity due to disorders of glucose and lipid metabolism (GroupA)
Metabolic management (includes monitoring/treatment of hyperglycemia and hyperlipidemia) (GroupA) 9CC
Morbidity due to sensory impairment (GroupA)
Referral to a multidisciplinary care team, if available, and regular audiologic and ophthalmologic evaluations to optimize hearing and vision (GroupA) 9NC
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
P
Morbidity due to disorders of glucose and lipid metabolism (GroupA)
Metabolic management (includes monitoring/treatment of hyperglycemia and hyperlipidemia) (GroupA) 9CC
Morbidity due to sensory impairment (GroupA)
Referral to a multidisciplinary care team, if available, and regular audiologic and ophthalmologic evaluations to optimize hearing and vision (GroupA) 9NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PIK3R1 ⇔ 0010026 SHORT SYNDROME
Moderate Actionability
Moderate Actionability
2021/03/29
Released
1.0.0
P
Morbidity due to disorders of glucose and lipid metabolism (GroupA)
Metabolic management (includes monitoring/treatment of hyperglycemia and hyperlipidemia) (GroupA) 9CC
Morbidity due to sensory impairment (GroupA)
Referral to a multidisciplinary care team, if available, and regular audiologic and ophthalmologic evaluations to optimize hearing and vision (GroupA) 9NC
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 Pediatric context for this topic
¤ Powered by BCM's Genboree.