ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Cystinosis
Gene/Gene Panel: CTNS
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.2.3
P
Corneal crystals (GroupA)
Ophthalmic cysteamine (GroupA) 8DB
End-Stage Renal Disease (ESRD) (GroupA)
Oral cysteamine (GroupA) 9CB
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CTNS ⇔ 0016239 CYSTINOSIS, NEPHROPATHIC; CTNS
Moderate Actionability
Moderate Actionability
2022/02/09
Released (Under revision)
1.2.2
P
Corneal crystals (GroupA)
Ophthalmic cysteamine (GroupA) 8DB
End-Stage Renal Disease (ESRD) (GroupA)
Oral cysteamine (GroupA) 9CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CTNS ⇔ 0016239 CYSTINOSIS, NEPHROPATHIC; CTNS
Moderate Actionability
Moderate Actionability
2021/11/17
Released
1.2.2
P
Corneal crystals (GroupA)
Ophthalmic cysteamine (GroupA) 8DB
End-Stage Renal Disease (ESRD) (GroupA)
Oral cysteamine (GroupA) 9CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
CTNS ⇔ 0016239 CYSTINOSIS, NEPHROPATHIC; CTNS
Moderate Actionability
Moderate Actionability
2021/07/23
Released (Under revision)
1.2.1
P
Corneal crystals (GroupA)
Ophthalmic cysteamine (GroupA) 8DB
End-Stage Renal Disease (ESRD) (GroupA)
Oral cysteamine (GroupA) 9CB
MONDO added
2020/08/19
Released
1.2.1
P
Corneal crystals (GroupA)
Ophthalmic cysteamine (GroupA) 8DB
End-Stage Renal Disease (ESRD) (GroupA)
Oral cysteamine (GroupA) 9CB
MONDO added
2020/07/14
Released (Under revision)
1.2.0
P
Corneal crystals (GroupA)
Ophthalmic cysteamine (GroupA) 8DB
End-Stage Renal Disease (ESRD) (GroupA)
Oral cysteamine (GroupA) 9CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
P
Corneal crystals (GroupA)
Ophthalmic cysteamine (GroupA) 8DB
End-Stage Renal Disease (ESRD) (GroupA)
Oral cysteamine (GroupA) 9CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
P
Corneal crystals
Ophthalmic cysteamine 8DB
End-Stage Renal Disease (ESRD)
Oral cysteamine 9CB
Internal system migration related to merging adult and pediatric contexts.
2018/12/19
Released
1.0.0
P
Corneal crystals
Ophthalmic cysteamine 8DB
End-Stage Renal Disease (ESRD)
Oral cysteamine 9CB
2018/11/26
In Preparation
N/A
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