ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Biallelic RPE65 Mutation-Associated Retinal Dystrophy
Gene/Gene Panel: RPE65
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.4
A
Progression of visual impairment (GroupA)
Gene therapy limited to clinically affected individuals with viable retinal cells (GroupA) 10NN
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RPE65 ⇔ 0008765 LEBER CONGENITAL AMAUROSIS 2; LCA2
Strong Actionability
Strong Actionability
RPE65 ⇔ 0013425 RETINITIS PIGMENTOSA 20; RP20
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
1.0.3
A
Progression of visual impairment (GroupA)
Gene therapy limited to clinically affected individuals with viable retinal cells (GroupA) 10NN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RPE65 ⇔ 0008765 LEBER CONGENITAL AMAUROSIS 2; LCA2
Strong Actionability
Strong Actionability
RPE65 ⇔ 0013425 RETINITIS PIGMENTOSA 20; RP20
Strong Actionability
Strong Actionability
2021/10/18
Released
1.0.3
A
Progression of visual impairment (GroupA)
Gene therapy limited to clinically affected individuals with viable retinal cells (GroupA) 10NN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RPE65 ⇔ 0008765 LEBER CONGENITAL AMAUROSIS 2; LCA2
Strong Actionability
Strong Actionability
RPE65 ⇔ 0013425 RETINITIS PIGMENTOSA 20; RP20
Strong Actionability
Strong Actionability
2021/10/18
Released (Under revision)
1.0.2
A
Progression of visual impairment (GroupA)
Gene therapy limited to clinically affected individuals with viable retinal cells (GroupA) 10NN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RPE65 ⇔ 0008765 LEBER CONGENITAL AMAUROSIS 2; LCA2
Strong Actionability
Strong Actionability
RPE65 ⇔ 0013425 RETINITIS PIGMENTOSA 20; RP20
Strong Actionability
Strong Actionability
2021/10/04
Released
1.0.2
A
Progression of visual impairment (GroupA)
Gene therapy limited to clinically affected individuals with viable retinal cells (GroupA) 10NN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
RPE65 ⇔ 0008765 LEBER CONGENITAL AMAUROSIS 2; LCA2
Strong Actionability
Strong Actionability
RPE65 ⇔ 0013425 RETINITIS PIGMENTOSA 20; RP20
Strong Actionability
Strong Actionability
2021/08/02
Released (Under revision)
1.0.1
A
Progression of visual impairment (GroupA)
Gene therapy limited to clinically affected individuals with viable retinal cells (GroupA) 10NN
Added MONDO ID
2020/04/29
Released
1.0.1
A
Progression of visual impairment (GroupA)
Gene therapy limited to clinically affected individuals with viable retinal cells (GroupA) 10NN
Added MONDO ID
2019/10/03
Released (Under revision)
1.0.0
A
Progression of visual impairment
Gene therapy limited to clinically affected individuals with viable retinal cells 10NN
2019/07/13
Released
1.0.0
A
Progression of visual impairment
Gene therapy limited to clinically affected individuals with viable retinal cells 10NN
2019/04/09
In Preparation
N/A
We have begun assessment of the Adult context for this topic
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