ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Charcot - Marie - Tooth Disease, Type 1
Gene/Gene Panel: PMP22, MPZ, LITAF, EGR2, NEFL
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/08/16
Released
3.0.0
A
Demyelinating peripheral neuropathy (GroupA)
Avoidance of neurotoxic drugs (GroupA) 9CN
Impairments in muscle strength, range of motion, mobility, and balance (GroupA)
Evaluation by specialists to guide exercise and strength training programs (GroupA) 8CA
Updated report and scoring pairs
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PMP22 ⇔ 0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
Moderate Actionability
Moderate Actionability
PMP22 ⇔ 0019011 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
Moderate Actionability
Moderate Actionability
MPZ ⇔ 0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
Moderate Actionability
Moderate Actionability
LITAF ⇔ 0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C
Moderate Actionability
Moderate Actionability
EGR2 ⇔ 0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
Moderate Actionability
Moderate Actionability
NEFL ⇔ 0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F
Moderate Actionability
Moderate Actionability
2024/06/14
Released (Under revision)
2.1.2
A
Demyelinating peripheral neuropathy (GroupA)
Regular medical evaluations (GroupA) IN
Avoidance of Vincristine, paclitaxel, succinylcholine (GroupA) 9CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
2.1.2
A
Demyelinating peripheral neuropathy (GroupA)
Regular medical evaluations (GroupA) IN
Avoidance of Vincristine, paclitaxel, succinylcholine (GroupA) 9CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
2.1.1
A
Demyelinating peripheral neuropathy (GroupA)
Regular medical evaluations (GroupA) IN
Avoidance of Vincristine, paclitaxel, succinylcholine (GroupA) 9CC
Added MONDO IDs.
2020/04/16
Released
2.1.1
A
Demyelinating peripheral neuropathy (GroupA)
Regular medical evaluations (GroupA) IN
Avoidance of Vincristine, paclitaxel, succinylcholine (GroupA) 9CC
Added MONDO IDs.
2019/10/03
Released (Under revision)
2.1.0
A
Demyelinating peripheral neuropathy
Avoidance of Vincristine, paclitaxel, succinylcholine 9CC
Regular medical evaluations IN
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
2.1.0
A
Demyelinating peripheral neuropathy
Avoidance of Vincristine, paclitaxel, succinylcholine 9CC
Regular medical evaluations IN
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
2.0.1
A
Demyelinating peripheral neuropathy
Avoidance of Vincristine, paclitaxel, succinylcholine 9CC
Regular medical evaluations IN
Internal system migration related to score text replacement from E to N
2018/02/05
Released
2.0.0
A
Demyelinating peripheral neuropathy
Avoidance of Vincristine, paclitaxel, succinylcholine 9CC
Regular medical evaluations IN
2018/01/11
Released
1.0.1
A
Demyelinating peripheral neuropathy (MPZ, LITAF, EGTR2, NEFL)
Avoidance of Vincristine 10CC
Regular medical evaluations 7CC
Demyelinating peripheral neuropathy (PMP22)
Avoidance of Vincristine 10CC
Regular medical evaluations 7CC
2017/10/23
Released
1.0.0
A
Demyelinating peripheral neuropathy (MPZ, LITAF, EGTR2, NEFL)
Avoidance of Vincristine 10CC
Regular medical evaluations 7CC
Demyelinating peripheral neuropathy (PMP22)
Avoidance of Vincristine 10CC
Regular medical evaluations 7CC
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