ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Charcot - Marie - Tooth Disease, Type 1
Gene/Gene Panel: NEFL, EGR2, LITAF, PMP22, MPZ
Context: Pediatric
2024/08/16
Released
1.0.0
Demyelinating peripheral neuropathy
(GroupA)
Avoidance of neurotoxic drugs
(GroupA)
8CB
Impairments in muscle strength, range of motion, mobility, and balance
(GroupA)
Evaluation by specialists to guide exercise and strength training programs
(GroupA)
8NA
New report
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
PMP22
⇔
0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
Moderate Actionability
Limited Actionability
PMP22
⇔
0019011 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
Moderate Actionability
Limited Actionability
MPZ
⇔
0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
Moderate Actionability
Limited Actionability
LITAF
⇔
0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C
Moderate Actionability
Limited Actionability
EGR2
⇔
0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
Moderate Actionability
Limited Actionability
NEFL
⇔
0019011 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F
Moderate Actionability
Limited Actionability
2021/12/06
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic