Gene Function

Might be involved in growth regulation, and in myelinization in the peripheral nervous system Source: UniProt

Relationship to CMT

CMT1 AD
3 subtypes
17p12

First described 1991

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT1A	Inheritanceautosomal dominant	ClassCMT1	OMIM118220	Sentinel Publication Duplication in Chromosome 17p11.2 in Charcot-Marie-Tooth Neuropathy Type 1A (CMT 1A) 1991 · 10.1016/0960-8966(91)90055-W The Peripheral Myelin Protein Gene PMP-22 is Contained Within the Charcot-Marie-Tooth Disease Type 1A Duplication 1992 · 10.1038/ng0692-171
SubtypeHNPP	Inheritanceautosomal dominant	ClassCMT1	OMIM162500	Sentinel Publication DNA Deletion Associated with Hereditary Neuropathy with Liability to Pressure Palsies 1993 · 10.1016/0092-8674(93)90058-x A Novel PMP22 Mutation Ser22Phe in a Family with Hereditary Neuropathy with Liability to Pressure Palsies and CMT1A Phenotypes 2004 · 10.1007/s10048-004-0184-1
SubtypeCMT1E	Inheritanceautosomal dominant	ClassCMT1	OMIM118300	Sentinel Publication A Unique Point Mutation in the PMP22 Gene is Associated with Charcot-Marie-Tooth Disease and Deafness 1999 · 10.1086/302420

Stored Identifiers

No HGNC Aliases

hgnc_idHGNC:9118

ensembl_gene_idENSG00000109099

coords_grch38chr17:15176316-15272292

coords_grch37chr17:15133095-15168643

entrez_id5376

omim_gene601097

uniprot_idsQ01453

refseq_accessionNM_000304

mane_refseqNM_000304.4

mane_ensemblENST00000312280.9

External recordsHGNC:9118OMIM 601097gnomADUniProt Q01453ClinGenClinVar P/LPOrphanetMANE NM_000304.4

EvidenceClinGen Definitive Charcot-Marie-Tooth disease type 1APanelApp GreenClinGen dosage HI 3 · Sufficient evidence

ClinVar Variants

Pathogenic and likely pathogenic variants in PMP22, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. 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.

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, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

The Dorsal Root

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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.

Error 404: Gene Not Found

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