ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Alport syndrome
Gene/Gene Panel: COL4A5
Context: Adult
2022/04/20
Released
1.0.1
Progression of renal disease
(GroupA)
Referral to a specialist for evaluation to guide treatment with angiotensin-converting enzyme inhibitors (ACEi)
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL4A5
⇔
0018965 ALPORT SYNDROME 1, X-LINKED; ATS1
Strong Actionability
Strong Actionability
COL4A3
⇔
0018965 ALPORT SYNDROME 3, AUTOSOMAL DOMINANT; ATS3
Assertion Pending
Strong Actionability
COL4A4
⇔
0018965 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2
Assertion Pending
Strong Actionability
2022/04/20
Released
(Under revision)
1.0.0
Progression of renal disease
(GroupA)
Referral to a specialist for evaluation to guide treatment with angiotensin-converting enzyme inhibitors (ACEi)
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL4A5
⇔
0018965 ALPORT SYNDROME 1, X-LINKED; ATS1
Strong Actionability
Strong Actionability
COL4A3
⇔
0018965 ALPORT SYNDROME 3, AUTOSOMAL DOMINANT; ATS3
Assertion Pending
Strong Actionability
COL4A4
⇔
0018965 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2
Assertion Pending
Strong Actionability
2022/04/20
Released
1.0.0
Progression of renal disease
(GroupA)
Referral to a specialist for evaluation to guide treatment with angiotensin-converting enzyme inhibitors (ACEi)
(GroupA)
10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL4A5
⇔
0018965 ALPORT SYNDROME 1, X-LINKED; ATS1
Strong Actionability
Strong Actionability
COL4A3
⇔
0018965 ALPORT SYNDROME 3, AUTOSOMAL DOMINANT; ATS3
Assertion Pending
Strong Actionability
COL4A4
⇔
0018965 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2
Assertion Pending
Strong Actionability
2022/03/29
In Preparation
N/A
We have begun assessment of the Adult context for this topic