ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Gaucher Disease
Gene/Gene Panel: GBA
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2023/12/22
Released
2.0.1
A
Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) (GroupA)
Evaluation and management by a multidisciplinary care center for surveillance and initiation of enzyme replacement therapy or substrate reduction therapy, when indicated (GroupA) 10CA
Customized assertions so that the assertion only applies to the primary MONDO and not the secondary MONDOs.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GBA ⇔ 0009265 GAUCHER DISEASE, TYPE I; GD1
Strong Actionability
Strong Actionability
GBA ⇔ 0009266 GAUCHER DISEASE, TYPE II; GD2
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0009267 GAUCHER DISEASE, TYPE III; GD3
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0009268 GAUCHER DISEASE, TYPE IIIC; GD3C
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0011945 GAUCHER DISEASE, PERINATAL LETHAL
Assertion Pending
No Assertion: scoring group absence
2023/12/22
Released (Under revision)
2.0.0
A
Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) (GroupA)
Evaluation and management by a multidisciplinary care center for surveillance and initiation of enzyme replacement therapy or substrate reduction therapy, when indicated (GroupA) 10CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GBA ⇔ 0009265 GAUCHER DISEASE, TYPE I; GD1
Strong Actionability
Strong Actionability
GBA ⇔ 0009266 GAUCHER DISEASE, TYPE II; GD2
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0009267 GAUCHER DISEASE, TYPE III; GD3
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0009268 GAUCHER DISEASE, TYPE IIIC; GD3C
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0011945 GAUCHER DISEASE, PERINATAL LETHAL
Assertion Pending
No Assertion: scoring group absence
2023/04/20
Released
2.0.0
A
Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) (GroupA)
Evaluation and management by a multidisciplinary care center for surveillance and initiation of enzyme replacement therapy or substrate reduction therapy, when indicated (GroupA) 10CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GBA ⇔ 0009265 GAUCHER DISEASE, TYPE I; GD1
Strong Actionability
Strong Actionability
GBA ⇔ 0009266 GAUCHER DISEASE, TYPE II; GD2
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0009267 GAUCHER DISEASE, TYPE III; GD3
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0009268 GAUCHER DISEASE, TYPE IIIC; GD3C
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0011945 GAUCHER DISEASE, PERINATAL LETHAL
Assertion Pending
No Assertion: scoring group absence
2022/08/25
Released (Under revision)
1.1.3
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease) (GroupA)
Surveillance and initiation of ERT (GroupA) 9CB
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.1.3
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease) (GroupA)
Surveillance and initiation of ERT (GroupA) 9CB
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.1.2
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease) (GroupA)
Surveillance and initiation of ERT (GroupA) 9CB
MONDO IDs added, scoring groups unadjusted
2021/01/19
Released
1.1.2
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease) (GroupA)
Surveillance and initiation of ERT (GroupA) 9CB
MONDO IDs added, scoring groups unadjusted
2020/04/29
Released (Under revision)
1.1.1
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease) (GroupA)
Surveillance and initiation of ERT (GroupA) 9CB
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
1.1.1
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease) (GroupA)
Surveillance and initiation of ERT (GroupA) 9CB
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2019/10/03
Released (Under revision)
1.1.0
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease)
Surveillance and initiation of ERT 9CB
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease)
Surveillance and initiation of ERT 9CB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease)
Surveillance and initiation of ERT 9CB
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.1
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease)
Surveillance and initiation of ERT 9CB
2017/10/23
Released
1.0.0
A
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease)
Surveillance and initiation of ERT 9CB
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