×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.
28555600
2017
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
GeneticVariation
disease
CLINVAR
Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.
27068304
2016
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
26752306
2016
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
27231023
2016
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Phenotypic variability of CMT4C in a French-Canadian kindred.
25737037
2015
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
26392352
2015
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
GeneticVariation
disease
BEFREE
Loss-of-function mutations in the Src homology 3 (SH3) domain and tetratricopeptide repeats 2 (SH3TC2 ) gene cause autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy.
24833716
2014
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
23553667
2013
×
Entrez Id:
8898
Gene Symbol:
MTMR2
MTMR2
0.120
GeneticVariation
disease
BEFREE
To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B ) family.
23749797
2013
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
23281072
2013
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
22978647
2013
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
GeneticVariation
disease
CLINVAR
High frequency of SH3TC2 mutations in Czech HMSN I patients.
21291453
2011
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
High frequency of SH3TC2 mutations in Czech HMSN I patients.
21291453
2011
×
Entrez Id:
8898
Gene Symbol:
MTMR2
MTMR2
0.120
Biomarker
disease
BEFREE
We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT ) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease.
22028665
2011
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
21840889
2011
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
GeneticVariation
disease
CLINVAR
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
20220177
2010
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
20826437
2010
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.
20028792
2010
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
GeneticVariation
disease
CLINVAR
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
19744956
2009
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
19744956
2009
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
18511281
2008
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
GeneticVariation
disease
BEFREE
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4 .
17470135
2007
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
17470135
2007
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
CausalMutation
disease
CLINVAR
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
16924012
2006
×
Entrez Id:
79628
Gene Symbol:
SH3TC2
SH3TC2
0.120
GeneticVariation
disease
CLINVAR
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
16924012
2006