LOVD PMP22 homepage

General information
Gene name Peripheral myelin protein 22
Gene symbol PMP22
Chromosome Location 17p12
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the PMP22 database
Date of creation April 29, 2010
Last update March 31, 2017
Version PMP22 170331
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007949.1
Transcript refseq ID NM_000304.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 2
Total number of individuals with variant(s) 2
Total number of variants reported 2
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NOTE Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB.
All variants submitted here will be shared with the IPNMDB.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the PMP22 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the PMP22 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PMP22 database
Variants with no known pathogenicity Listing of all PMP22 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.LOVD.nl/PMP22
HGNC 9118
Entrez Gene 5376
OMIM - Gene 601097
OMIM - Disease #1 Charcot-Marie-Tooth disease, demyelinating, type 1A (CMT-1A)
OMIM - Disease #2 Charcot-Marie-Tooth disease, deafness, type 1E (CMT-1E)
OMIM - Disease #3 Guillain-Barre syndrome, familial (GBS)
OMIM - Disease #4 Neuropathy, recurrent, with pressure palsies (HNPP)
OMIM - Disease #5 Dejerine-Sottas disease
OMIM - Disease #6 Roussy-Levy syndrome
UniProtKB (SwissProt/TrEMBL) Q01453
GeneCards PMP22
GeneTests PMP22
External link IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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