ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Biallelic RPE65 Mutation-Associated Retinal Dystrophy
Gene/Gene Panel: RPE65
Context: Pediatric
2022/02/09
Released
1.2.3
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
Moderate Actionability
RPE65
⇔
0013425 RETINITIS PIGMENTOSA 20; RP20
Strong Actionability
Moderate Actionability
2022/02/09
Released
(Under revision)
1.2.2
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
Moderate Actionability
RPE65
⇔
0013425 RETINITIS PIGMENTOSA 20; RP20
Strong Actionability
Moderate Actionability
2021/10/20
Released
1.2.2
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
Moderate Actionability
RPE65
⇔
0013425 RETINITIS PIGMENTOSA 20; RP20
Strong Actionability
Moderate Actionability
2021/09/15
Released
(Under revision)
1.2.1
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
1.2.1
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)
1.2.0
Progression of visual impairment
Gene therapy limited to clinically affected individuals with viable retinal cells
10NN
2019/07/13
Released
1.2.0
Progression of visual impairment
Gene therapy limited to clinically affected individuals with viable retinal cells
10NN
2019/04/09
Released
(Under revision)
1.1.0
Progression of visual impairment
Evaluation by retinal specialist to determine when gene therapy is appropriate
10NN
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
Progression of visual impairment
Evaluation by retinal specialist to determine when gene therapy is appropriate
10NN
Internal system migration related to merging adult and pediatric contexts.
2019/03/22
Released
1.0.0
Progression of visual impairment
Evaluation by retinal specialist to determine when gene therapy is appropriate
10NN
2019/03/11
In Preparation
N/A