ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Gaucher Disease
Gene/Gene Panel: GBA
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/12/22
Released
1.0.2
P
Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) (GroupA)
Referral to specialists for surveillance and initiation of enzyme replacement 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 ⇔ 0018150 GAUCHER DISEASE, PERINATAL LETHAL
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE IIIC; GD3C
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE III; GD3
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE II; GD2
Strong Actionability
Definitive Actionability
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE I; GD1
Assertion Pending
No Assertion: scoring group absence
2023/12/22
Released (Under revision)
1.0.1
P
Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) (GroupA)
Referral to specialists for surveillance and initiation of enzyme replacement therapy, when indicated (GroupA) 10CA
Internal system migration to amend the actionability rationale with respect to the assertion, definitive actionability.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GBA ⇔ 0018150 GAUCHER DISEASE, PERINATAL LETHAL
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE IIIC; GD3C
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE III; GD3
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE II; GD2
Strong Actionability
Definitive Actionability
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE I; GD1
Assertion Pending
No Assertion: scoring group absence
2023/06/28
Released
1.0.1
P
Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) (GroupA)
Referral to specialists for surveillance and initiation of enzyme replacement therapy, when indicated (GroupA) 10CA
Internal system migration to amend the actionability rationale with respect to the assertion, definitive actionability.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GBA ⇔ 0018150 GAUCHER DISEASE, PERINATAL LETHAL
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE IIIC; GD3C
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE III; GD3
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE II; GD2
Strong Actionability
Definitive Actionability
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE I; GD1
Assertion Pending
No Assertion: scoring group absence
2023/06/28
Released (Under revision)
1.0.0
P
Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) (GroupA)
Referral to specialists for surveillance and initiation of enzyme replacement therapy, when indicated (GroupA) 10CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GBA ⇔ 0018150 GAUCHER DISEASE, PERINATAL LETHAL
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE IIIC; GD3C
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE III; GD3
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE II; GD2
Strong Actionability
Definitive Actionability
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE I; GD1
Assertion Pending
No Assertion: scoring group absence
2023/04/20
Released
1.0.0
P
Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) (GroupA)
Referral to specialists for surveillance and initiation of enzyme replacement therapy, when indicated (GroupA) 10CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
GBA ⇔ 0018150 GAUCHER DISEASE, PERINATAL LETHAL
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE IIIC; GD3C
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE III; GD3
Assertion Pending
No Assertion: scoring group absence
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE II; GD2
Strong Actionability
Definitive Actionability
GBA ⇔ 0018150 GAUCHER DISEASE, TYPE I; GD1
Assertion Pending
No Assertion: scoring group absence
2022/08/25
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
¤ Powered by BCM's Genboree.