Pathogenic and likely pathogenic variants in PNKP, as classified in ClinVar, are read live from NCBI.
Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.
Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.
Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, and one for a single submitter with criteria provided. A record with no criteria provided earns no stars and is not indexed.
Only aggregate germline records are indexed. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.
Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.
Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.
CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.
