ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Juvenile polyposis syndrome
Gene/Gene Panel: SMAD4, BMPR1A
Context: Pediatric
2023/02/02
Released
(Under revision)
Morbidity and mortality from GI neoplasia
(GroupA)
Evaluation and surveillance by specialist to guide treatment
(GroupA)
8CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD4
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Strong Actionability
BMPR1A
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Strong Actionability
2023/02/02
Released
Morbidity and mortality from GI neoplasia
(GroupA)
Evaluation and surveillance by specialist to guide treatment
(GroupA)
8CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD4
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Strong Actionability
BMPR1A
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Strong Actionability
2023/02/02
Released
(Under revision)
1.0.0
Morbidity and mortality from GI neoplasia
(GroupA)
Evaluation and surveillance by specialist to guide treatment
(GroupA)
8CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD4
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Strong Actionability
BMPR1A
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Strong Actionability
2023/01/26
Released
1.0.0
Morbidity and mortality from GI neoplasia
(GroupA)
Evaluation and surveillance by specialist to guide treatment
(GroupA)
8CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD4
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Strong Actionability
BMPR1A
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Strong Actionability
2020/02/19
In Preparation
N/A