ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Biotinidase Deficiency
Gene/Gene Panel: BTD
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/03/24
Released
1.2.5
A
Morbidity and mortality from biotin deficiency (GroupA)
Referral to a metabolic specialist for evaluation and biotin supplementation (GroupA) 6DC
System migration to fix the sem versioning
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BTD ⇔ 0009665 BIOTINIDASE DEFICIENCY
Limited Actionability
Limited Actionability
2024/03/24
Released (Under revision)
A
Morbidity and mortality from biotin deficiency (GroupA)
Referral to a metabolic specialist for evaluation and biotin supplementation (GroupA) 6DC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BTD ⇔ 0009665 BIOTINIDASE DEFICIENCY
Limited Actionability
Limited Actionability
2022/10/03
Released
A
Morbidity and mortality from biotin deficiency (GroupA)
Referral to a metabolic specialist for evaluation and biotin supplementation (GroupA) 6DC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
BTD ⇔ 0009665 BIOTINIDASE DEFICIENCY
Limited Actionability
Limited Actionability
2022/08/31
Released (Under revision)
1.2.3
A
Cutaneous manifestations (GroupA)
Biotin therapy (GroupA) 10CC
Neurological complications (GroupA)
Biotin therapy (GroupA) 11CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.3
A
Cutaneous manifestations (GroupA)
Biotin therapy (GroupA) 10CC
Neurological complications (GroupA)
Biotin therapy (GroupA) 11CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.2
A
Cutaneous manifestations (GroupA)
Biotin therapy (GroupA) 10CC
Neurological complications (GroupA)
Biotin therapy (GroupA) 11CC
2020/04/29
Released
1.2.2
A
Cutaneous manifestations (GroupA)
Biotin therapy (GroupA) 10CC
Neurological complications (GroupA)
Biotin therapy (GroupA) 11CC
2020/04/29
Released (Under revision)
1.2.1
A
Cutaneous manifestations (GroupA)
Biotin therapy (GroupA) 10CC
Neurological complications (GroupA)
Biotin therapy (GroupA) 11CC
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released
1.2.1
A
Cutaneous manifestations (GroupA)
Biotin therapy (GroupA) 10CC
Neurological complications (GroupA)
Biotin therapy (GroupA) 11CC
Updated to include a link to the ACMG ACT Sheet. Other parts of the report not updated.
2020/01/31
Released (Under revision)
1.2.0
A
Cutaneous manifestations (GroupA)
Biotin therapy (GroupA) 10CC
Neurological complications (GroupA)
Biotin therapy (GroupA) 11CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Cutaneous manifestations (GroupA)
Biotin therapy (GroupA) 10CC
Neurological complications (GroupA)
Biotin therapy (GroupA) 11CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Cutaneous manifestations
Biotin therapy 10CC
Neurological complications
Biotin therapy 11CC
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Cutaneous manifestations
Biotin therapy 10CC
Neurological complications
Biotin therapy 11CC
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.1
A
Cutaneous manifestations
Biotin therapy 10CC
Neurological complications
Biotin therapy 11CC
2017/10/23
Released
1.0.0
A
Cutaneous manifestations
Biotin therapy 10CC
Neurological complications
Biotin therapy 11CC
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