Gene: GDAP1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894078
rs104894078
GDAP1
0.720 GeneticVariation BEFREE Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), in which carriers of the GDAP1 p.R120W mutation can display a wide range of clinical severity. 25168384

2015
dbSNP: rs104894078
rs104894078
GDAP1
0.720 GeneticVariation BEFREE Our findings highlight the relevance of dominantly transmitted p.R120W GDAP1 gene mutations which can cause an axonal CMT with a wide clinical profile. 21199105

2010
dbSNP: rs104894078
rs104894078
GDAP1
T 0.720 CausalMutation CLINVAR

dbSNP: rs756461496
rs756461496
GDAP1
CT 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs886041386
rs886041386
GDAP1
C 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs1476856429
rs1476856429
GDAP1
0.020 GeneticVariation BEFREE In addition, we detected the presence of a single heterozygous variant of uncertain significance H256R in one additional family from the CMT cohorts. 29372391

2018
dbSNP: rs104894077
rs104894077
GDAP1
0.020 GeneticVariation BEFREE Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. 28395795

2017
dbSNP: rs104894075
rs104894075
GDAP1
0.020 GeneticVariation BEFREE Recurrent nonsense mutations (Q163X and S194X) showing regional distribution segregate with an early onset, severe course of recessive CMT disease with early loss of ambulancy. 21365284

2011
dbSNP: rs1476856429
rs1476856429
GDAP1
0.020 GeneticVariation BEFREE Here, we report two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). 21692914

2011
dbSNP: rs104894077
rs104894077
GDAP1
0.020 GeneticVariation BEFREE Among these, only two mutations, i.e., S194X and Q163X have been reported in a sufficient number of CMT families to allow for the construction of reliable phenotype-genotype correlations. 20232219

2010
dbSNP: rs104894075
rs104894075
GDAP1
0.020 GeneticVariation BEFREE To determine the clinical, electrophysiologic, and morphologic characteristics of a consanguineous Moroccan family with ARCMT disease associated with the S194X mutation in the GDAP1 gene. 12707075

2003
dbSNP: rs397515442
rs397515442
GDAP1
0.010 GeneticVariation BEFREE We describe a founder mutation in the gene encoding ganglioside-induced differentiation associated-protein 1 (GDAP1), leading to amino acid change p.H123R, as a common cause of autosomal dominant axonal Charcot-Marie-Tooth (CMT2) neuropathy in Finland. 23456260

2013
dbSNP: rs1131691282
rs1131691282
GDAP1
0.010 GeneticVariation BEFREE Here, we report two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). 21692914

2011
dbSNP: rs397515432
rs397515432
GDAP1
0.010 GeneticVariation BEFREE In this study, we characterize the CMT phenotype in one Polish family with recessive trait of inheritance at the clinical, electrophysiological, morphological, cellular, and genetic level associated with a new Gly327Asp mutation in the GDAP1 gene. 21365284

2011
dbSNP: rs104894080
rs104894080
GDAP1
0.010 GeneticVariation BEFREE In contrast to CMT4A caused by the S194X and Q163X mutations, the CMT phenotype resulting from the L239F substitution represents a milder clinical entity with a long-preserved period of ambulance at least until the end of the second decade of life. 20232219

2010
dbSNP: rs121908113
rs121908113
GDAP1
0.010 GeneticVariation BEFREE Here, we report an AD CMT family with a novel Q218E mutation in the GDAP1 gene. 18231710

2008