ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Autosomal Dominant Polycystic Kidney Disease
Gene/Gene Panel: PKD1, PKD2
Context: Adult
Date
Status
Outcomes-Interventions
Notes
2022/03/30
Released (Under revision)
2.1.3
Morbidity due to thoracic aortic disease (GroupA)
TAAD surveillance to guide surgical intervention (GroupA) 8DC
Neurologic disability or death due to ICA (GroupA)
ICA surveillance (GroupA) 7AB
Progression to ESRD (GroupA)
Pharmacologic management of renal function (GroupA) 9CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DNAJB11 0004691 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6
Moderate Actionability
Moderate Actionability
GANAB 0004691 POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
Moderate Actionability
Moderate Actionability
PKD1 0004691 POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1
Moderate Actionability
Moderate Actionability
PKD2 0004691 POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
Moderate Actionability
Moderate Actionability
2022/02/09
Released
2.1.3
Morbidity due to thoracic aortic disease (GroupA)
TAAD surveillance to guide surgical intervention (GroupA) 8DC
Neurologic disability or death due to ICA (GroupA)
ICA surveillance (GroupA) 7AB
Progression to ESRD (GroupA)
Pharmacologic management of renal function (GroupA) 9CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DNAJB11 0004691 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6
Moderate Actionability
Moderate Actionability
GANAB 0004691 POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
Moderate Actionability
Moderate Actionability
PKD1 0004691 POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1
Moderate Actionability
Moderate Actionability
PKD2 0004691 POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
Moderate Actionability
Moderate Actionability
2022/02/09
Released (Under revision)
2.1.2
Morbidity due to thoracic aortic disease (GroupA)
TAAD surveillance to guide surgical intervention (GroupA) 8DC
Neurologic disability or death due to ICA (GroupA)
ICA surveillance (GroupA) 7AB
Progression to ESRD (GroupA)
Pharmacologic management of renal function (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DNAJB11 0004691 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6
Moderate Actionability
Moderate Actionability
GANAB 0004691 POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
Moderate Actionability
Moderate Actionability
PKD1 0004691 POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1
Moderate Actionability
Moderate Actionability
PKD2 0004691 POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
Moderate Actionability
Moderate Actionability
2021/11/15
Released
2.1.2
Morbidity due to thoracic aortic disease (GroupA)
TAAD surveillance to guide surgical intervention (GroupA) 8DC
Neurologic disability or death due to ICA (GroupA)
ICA surveillance (GroupA) 7AB
Progression to ESRD (GroupA)
Pharmacologic management of renal function (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DNAJB11 0004691 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6
Moderate Actionability
Moderate Actionability
GANAB 0004691 POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
Moderate Actionability
Moderate Actionability
PKD1 0004691 POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1
Moderate Actionability
Moderate Actionability
PKD2 0004691 POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
Moderate Actionability
Moderate Actionability
2021/09/20
Released (Under revision)
2.1.1
Morbidity due to thoracic aortic disease (GroupA)
TAAD surveillance to guide surgical intervention (GroupA) 8DC
Neurologic disability or death due to ICA (GroupA)
ICA surveillance (GroupA) 7AB
Progression to ESRD (GroupA)
Pharmacologic management of renal function (GroupA) 9CA
2020/04/20
Released
2.1.1
Morbidity due to thoracic aortic disease (GroupA)
TAAD surveillance to guide surgical intervention (GroupA) 8DC
Neurologic disability or death due to ICA (GroupA)
ICA surveillance (GroupA) 7AB
Progression to ESRD (GroupA)
Pharmacologic management of renal function (GroupA) 9CA
2019/10/03
Released (Under revision)
2.1.0
Morbidity due to thoracic aortic disease
TAAD surveillance to guide surgical intervention 8DC
Neurologic disability or death due to ICA
ICA surveillance 7AB
Progression to ESRD
Pharmacologic management of renal function 9CA
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
2.1.0
Morbidity due to thoracic aortic disease
TAAD surveillance to guide surgical intervention 8DC
Neurologic disability or death due to ICA
ICA surveillance 7AB
Progression to ESRD
Pharmacologic management of renal function 9CA
Internal system migration related to merging adult and pediatric contexts.
2019/03/21
Released
2.0.0
Morbidity due to thoracic aortic disease
TAAD surveillance to guide surgical intervention 8DC
Neurologic disability or death due to ICA
ICA surveillance 7AB
Progression to ESRD
Pharmacologic management of renal function 9CA
2019/02/06
Released (Under revision)
1.0.1
Aortic valve replacement
Monitoring TAAAA 8DN
End stage renal disease
Blood pressure control 9CB
Intracranial aneurysm
MRA surveillance 8CC
Internal system migration related to score text replacement from E to N
2018/11/01
Released
1.0.1
Aortic valve replacement
Monitoring TAAAA 8DN
End stage renal disease
Blood pressure control 9CB
Intracranial aneurysm
MRA surveillance 8CC
Internal system migration related to score text replacement from E to N
2017/10/23
Released
1.0.0
Aortic valve replacement
Monitoring TAAAA 8DE
End stage renal disease
Blood pressure control 9CB
Intracranial aneurysm
MRA surveillance 8CC
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