ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Alport syndrome
Gene/Gene Panel: COL4A5
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/04/20
Released
1.0.1
P
Functional impairments from loss of hearing and vision (GroupA)
Regular audiologic and ophthalmologic evaluations to optimize hearing and vision (GroupA) 10CB
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
P
Functional impairments from loss of hearing and vision (GroupA)
Regular audiologic and ophthalmologic evaluations to optimize hearing and vision (GroupA) 10CB
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
P
Functional impairments from loss of hearing and vision (GroupA)
Regular audiologic and ophthalmologic evaluations to optimize hearing and vision (GroupA) 10CB
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 Pediatric context for this topic
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