LOVD GDAP1 homepage

General information
Gene name ganglioside-induced differentiation-associated protein 1
Gene symbol GDAP1
Chromosome Location 8q13.3
Database location mitodyn.org
Curator Julien CASSEREAU
Database reference for citations Cassereau et al., Orphanet J Rare Dis (2011)
PubMed references View all (unique) PubMed references in the GDAP1 database
Date of creation March 02, 2011
Last update May 30, 2016
Version GDAP1 160530
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_008787.1
Transcript refseq ID NM_018972.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 60
Total number of individuals with variant(s) 215
Total number of variants reported 399
Subscribe to updates of this gene
NOTE GDAP1, which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the GDAP1 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 GDAP1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the GDAP1 database
Variants with no known pathogenicity Listing of all GDAP1 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

Links to other resources
Homepage http://mitodyn.org
HGNC 15968
Entrez Gene 54332
OMIM - Gene 606598
OMIM - Disease #1 Charcot-Marie-Tooth Disease, Type 4A (CMT4A)
OMIM - Disease #2 Charcot-Marie-Tooth Disease, Axonal, Type 2K (CMT2K)
OMIM - Disease #3 Charcot-Marie-Tooth disease, recessive intermediate, A (CMTRIA)
OMIM - Disease #4 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (AR-CMT2)
UniProtKB (SwissProt/TrEMBL) Q8TB36
GeneCards GDAP1
GeneTests GDAP1
External link #1 http://mitolab.eu

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 © 2019. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.