Gene: MECP2 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome. 10944854 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 25541993 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT. 10767337 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR We review the literature on MECP2 mutations in Rett syndrome. 11269512 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation. 12966523 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. 19442733 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. 24626160 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)]. 11402105 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. 11331619 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905 1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR DHPLC analysis of the MECP2 gene in Italian Rett patients. 11462237 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Large MECP2 rearrangements cause Rett syndrome in a significant number of girls without 'classic' mutations in this gene. 17986102 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR A Rett syndrome MECP2 mutation that causes mental retardation in men. 11805248 2002
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro. 20093853 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Collectively, we tested 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT and found MECP2 mutations in 83 (40%) of 209 and 16 (84%) of 19 of the patients, respectively. 11055898 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. 11313756 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR From these results, it is suggested that the clinical phenotype of RTT is variable and it is important to investigate the MECP2 genotype for patients having more than five criteria and not only in those who exhibit all RTT diagnostic criteria. 11376998 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. 21764336 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype. 27255190 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR [Comparative and experimental studies on various prosthesis cleaners. 1. Testing of mechanical cleans power and the action on prosthesis materials]. 1105898 1975
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999