ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Smith-Lemli-Optiz Syndrome
Gene/Gene Panel: DHCR7
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
1.0.2
P
Impaired development (GroupA)
Dietary cholesterol supplementation (GroupA) 8CC
Impaired growth (GroupA)
Dietary cholesterol supplementation (GroupA) 8CN
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DHCR7 ⇔ 0010035 SMITH-LEMLI-OPITZ SYNDROME; SLOS
Limited Actionability
Limited Actionability
2022/02/09
Released (Under revision)
1.0.1
P
Impaired development (GroupA)
Dietary cholesterol supplementation (GroupA) 8CC
Impaired growth (GroupA)
Dietary cholesterol supplementation (GroupA) 8CN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DHCR7 ⇔ 0010035 SMITH-LEMLI-OPITZ SYNDROME; SLOS
Limited Actionability
Limited Actionability
2021/03/17
Released
1.0.1
P
Impaired development (GroupA)
Dietary cholesterol supplementation (GroupA) 8CC
Impaired growth (GroupA)
Dietary cholesterol supplementation (GroupA) 8CN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
DHCR7 ⇔ 0010035 SMITH-LEMLI-OPITZ SYNDROME; SLOS
Limited Actionability
Limited Actionability
2021/03/17
Released (Under revision)
1.0.0
P
Impaired development (GroupA)
Dietary cholesterol supplementation (GroupA) 8CC
Impaired growth (GroupA)
Dietary cholesterol supplementation (GroupA) 8CN
2020/06/18
Released
1.0.0
P
Impaired development (GroupA)
Dietary cholesterol supplementation (GroupA) 8CC
Impaired growth (GroupA)
Dietary cholesterol supplementation (GroupA) 8CN
2020/06/03
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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