ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Biotinidase Deficiency
Gene/Gene Panel: BTD
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/06/28
Released
1.0.1
P
Morbidity and mortality from biotin deficiency (GroupA)
Referral to a metabolic specialist for evaluation and biotin supplementation (GroupA) 11CC
Internal system migration to amend the actionability rationale with respect to the assertion, definitive actionability.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BTD ⇔ 0009665 BIOTINIDASE DEFICIENCY
Strong Actionability
Definitive Actionability
2023/06/28
Released (Under revision)
1.0.0
P
Morbidity and mortality from biotin deficiency (GroupA)
Referral to a metabolic specialist for evaluation and biotin supplementation (GroupA) 11CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BTD ⇔ 0009665 BIOTINIDASE DEFICIENCY
Strong Actionability
Definitive Actionability
2022/09/21
Released
1.0.0
P
Morbidity and mortality from biotin deficiency (GroupA)
Referral to a metabolic specialist for evaluation and biotin supplementation (GroupA) 11CC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BTD ⇔ 0009665 BIOTINIDASE DEFICIENCY
Strong Actionability
Definitive Actionability
2022/08/31
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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