ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Noonan syndrome
Gene/Gene Panel: PTPN11
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.3
P
Cardiac manifestations (GroupA)
Cardiac surveillance (GroupA) 8CD
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BRAF ⇔ 0013379 NOONAN SYNDROME 7; NS7
Limited Actionability
Assertion Pending
KRAS ⇔ 0012371 NOONAN SYNDROME 3; NS3
Limited Actionability
Assertion Pending
NRAS ⇔ 0013186 NOONAN SYNDROME 6; NS6
Limited Actionability
Assertion Pending
PTPN11 ⇔ 0008104 NOONAN SYNDROME 1; NS1
Limited Actionability
Assertion Pending
RAF1 ⇔ 0012690 NOONAN SYNDROME 5; NS5
Limited Actionability
Assertion Pending
RIT1 ⇔ 0014143 NOONAN SYNDROME 8; NS8
Limited Actionability
Assertion Pending
SOS1 ⇔ 0012547 NOONAN SYNDROME 4; NS4
Limited Actionability
Assertion Pending
SOS2 ⇔ 0014691 NOONAN SYNDROME 9; NS9
Limited Actionability
Assertion Pending
2022/02/09
Released (Under revision)
1.0.2
P
Cardiac manifestations (GroupA)
Cardiac surveillance (GroupA) 8CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BRAF ⇔ 0013379 NOONAN SYNDROME 7; NS7
Limited Actionability
Assertion Pending
KRAS ⇔ 0012371 NOONAN SYNDROME 3; NS3
Limited Actionability
Assertion Pending
NRAS ⇔ 0013186 NOONAN SYNDROME 6; NS6
Limited Actionability
Assertion Pending
PTPN11 ⇔ 0008104 NOONAN SYNDROME 1; NS1
Limited Actionability
Assertion Pending
RAF1 ⇔ 0012690 NOONAN SYNDROME 5; NS5
Limited Actionability
Assertion Pending
RIT1 ⇔ 0014143 NOONAN SYNDROME 8; NS8
Limited Actionability
Assertion Pending
SOS1 ⇔ 0012547 NOONAN SYNDROME 4; NS4
Limited Actionability
Assertion Pending
SOS2 ⇔ 0014691 NOONAN SYNDROME 9; NS9
Limited Actionability
Assertion Pending
2021/12/01
Released
1.0.2
P
Cardiac manifestations (GroupA)
Cardiac surveillance (GroupA) 8CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BRAF ⇔ 0013379 NOONAN SYNDROME 7; NS7
Limited Actionability
Assertion Pending
KRAS ⇔ 0012371 NOONAN SYNDROME 3; NS3
Limited Actionability
Assertion Pending
NRAS ⇔ 0013186 NOONAN SYNDROME 6; NS6
Limited Actionability
Assertion Pending
PTPN11 ⇔ 0008104 NOONAN SYNDROME 1; NS1
Limited Actionability
Assertion Pending
RAF1 ⇔ 0012690 NOONAN SYNDROME 5; NS5
Limited Actionability
Assertion Pending
RIT1 ⇔ 0014143 NOONAN SYNDROME 8; NS8
Limited Actionability
Assertion Pending
SOS1 ⇔ 0012547 NOONAN SYNDROME 4; NS4
Limited Actionability
Assertion Pending
SOS2 ⇔ 0014691 NOONAN SYNDROME 9; NS9
Limited Actionability
Assertion Pending
2021/08/02
Released (Under revision)
1.0.1
P
Cardiac manifestations (GroupA)
Cardiac surveillance (GroupA) 8CD
Added MONDO IDs.
2020/04/22
Released
1.0.1
P
Cardiac manifestations (GroupA)
Cardiac surveillance (GroupA) 8CD
Added MONDO IDs.
2020/04/22
Released (Under revision)
1.0.0
P
Cardiac manifestations (GroupA)
Cardiac surveillance (GroupA) 8CD
2019/11/07
Released
1.0.0
P
Cardiac manifestations (GroupA)
Cardiac surveillance (GroupA) 8CD
2019/09/21
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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