ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Rhabdoid tumor predisposition syndrome
Gene/Gene Panel: SMARCA4, SMARCB1
Context: Pediatric
2022/02/09
Released
1.0.2
Morbidity and mortality from RTPS-related tumors
(GroupA)
Imaging surveillance to guide detection and initiate multimodal treatment (including a combination of surgery, chemotherapy, and/or radiation therapy)
(GroupA)
6DD
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMARCA4
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Limited Actionability
Limited Actionability
SMARCB1
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
Limited Actionability
Limited Actionability
2022/02/09
Released
(Under revision)
1.0.1
Morbidity and mortality from RTPS-related tumors
(GroupA)
Imaging surveillance to guide detection and initiate multimodal treatment (including a combination of surgery, chemotherapy, and/or radiation therapy)
(GroupA)
6DD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMARCA4
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Limited Actionability
Limited Actionability
SMARCB1
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
Limited Actionability
Limited Actionability
2022/01/19
Released
1.0.1
Morbidity and mortality from RTPS-related tumors
(GroupA)
Imaging surveillance to guide detection and initiate multimodal treatment (including a combination of surgery, chemotherapy, and/or radiation therapy)
(GroupA)
6DD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMARCA4
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Limited Actionability
Limited Actionability
SMARCB1
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
Limited Actionability
Limited Actionability
2021/07/22
Released
(Under revision)
1.0.0
Morbidity and mortality from RTPS-related tumors
(GroupA)
Imaging surveillance to guide detection and initiate multimodal treatment (including a combination of surgery, chemotherapy, and/or radiation therapy)
(GroupA)
6DD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMARCA4
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Limited Actionability
Limited Actionability
SMARCB1
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
Limited Actionability
Assertion Pending
2021/07/21
Released
1.0.0
Morbidity and mortality from RTPS-related tumors
(GroupA)
Imaging surveillance to guide detection and initiate multimodal treatment (including a combination of surgery, chemotherapy, and/or radiation therapy)
(GroupA)
6DD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SMARCA4
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2
Limited Actionability
Limited Actionability
SMARCB1
⇔
0016473 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
Limited Actionability
Assertion Pending
2021/06/16
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic