ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: PTEN Hamartoma Tumor Syndrome - Cowden Syndrome
Gene/Gene Panel: PTEN
Context: Pediatric
2022/02/09
Released
1.0.2
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
9AC
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PTEN
⇔
0008020 COWDEN SYNDROME 1; CWS1
Moderate Actionability
Moderate Actionability
2022/02/09
Released
(Under revision)
1.0.1
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
9AC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PTEN
⇔
0008020 COWDEN SYNDROME 1; CWS1
Moderate Actionability
Moderate Actionability
2021/05/13
Released
1.0.1
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
9AC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PTEN
⇔
0008020 COWDEN SYNDROME 1; CWS1
Moderate Actionability
Moderate Actionability
2021/05/05
Released
(Under revision)
1.0.0
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
9AC
Added MONDO IDs.
2020/04/16
Released
1.0.0
Morbidity due to thyroid disease
(GroupA)
Surveillance to detect thyroid lesions and guide treatment
(GroupA)
9AC
Added MONDO IDs.
2019/10/21
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic