ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Juvenile polyposis syndrome
Gene/Gene Panel: SMAD4, BMPR1A
Context: Adult
2023/02/02
Released
(Under revision)
Morbidity and mortality from GI neoplasia
(GroupA)
Evaluation and surveillance by specialist to guide treatment
(GroupA)
9CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD4
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Moderate Actionability
BMPR1A
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Moderate Actionability
2023/02/02
Released
Morbidity and mortality from GI neoplasia
(GroupA)
Evaluation and surveillance by specialist to guide treatment
(GroupA)
9CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD4
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Moderate Actionability
BMPR1A
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Moderate Actionability
2023/02/02
Released
(Under revision)
2.0.0
Morbidity and mortality from GI neoplasia
(GroupA)
Evaluation and surveillance by specialist to guide treatment
(GroupA)
9CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD4
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Moderate Actionability
BMPR1A
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Moderate Actionability
2023/01/26
Released
2.0.0
Morbidity and mortality from GI neoplasia
(GroupA)
Evaluation and surveillance by specialist to guide treatment
(GroupA)
9CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMAD4
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Moderate Actionability
BMPR1A
⇔
0017380 JUVENILE POLYPOSIS SYNDROME; JPS
Moderate Actionability
Moderate Actionability
2022/11/29
Released
(Under revision)
1.1.2
Gastrointestinal cancer
(GroupA)
Endoscopic surveillance
(GroupA)
10CN
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.1.2
Gastrointestinal cancer
(GroupA)
Endoscopic surveillance
(GroupA)
10CN
Internal system migration associated with MONDO name addition.
2022/02/09
Released
(Under revision)
1.1.1
Gastrointestinal cancer
(GroupA)
Endoscopic surveillance
(GroupA)
10CN
MONDO IDs added, scoring groups unadjusted
2021/01/19
Released
1.1.1
Gastrointestinal cancer
(GroupA)
Endoscopic surveillance
(GroupA)
10CN
MONDO IDs added, scoring groups unadjusted
2019/10/03
Released
(Under revision)
1.1.0
Gastrointestinal cancer
Endoscopic surveillance
10CN
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
Gastrointestinal cancer
Endoscopic surveillance
10CN
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
Gastrointestinal cancer
Endoscopic surveillance
10CN
Internal system migration related to score text replacement from E to N