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PMP2

Synonyms
CMT1G, FABP8, M-FABP, MP2, P2
External resources
Summary
The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
192
Likely benign
131
Benign
808

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PMP2 gene.

Phenotype class
Patients in 3billion (%)

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