Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. 31536832 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities. 29266714 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE In 2009, four families with a distal duplication of Xq28 not including MECP2 and mediated by low-copy repeats (LCRs) designated "K" and "L" were reported with intellectual disability and epilepsy. 29341460 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE The nervous system is so acutely sensitive to the dose of methyl-CpG-binding protein 2 (MeCP2) that even a twofold change in MeCP2 protein-either increased or decreased-results in distinct disorders with overlapping features including ID, autistic behavior, and severe motor dysfunction. 28835516 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. 28230711 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE Moreover, missense mutations in the gene for TBLR1 that are associated with intellectual disability also prevent MeCP2 binding. 28348241 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE Intellectual disability may be considered a rare feature in RTS; more study is needed. 28039508 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE Specific mutations in MECP2 cause Rett syndrome (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X-linked intellectual disability (with and without spasticity) (OMIM 300055) and X-linked intellectual disability due to increased dosage of MECP2 (OMIM 300260). 27090848 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 26936630 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE Rett syndrome is a common genetic cause of intellectual disability in girls caused by a mutation in the MECP2 gene. 27473651 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE We report here the first missense variant located in AT-hook domain 1 and we underline the importance of MECP2 substitutions outside the canonical MeCP2 domains in X-linked intellectual disability. 26490184 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE Here we report on the identification of the p.Ala140Val mutation in the MECP2 gene in 4 males and 3 females of a large Caucasian family affected with X-linked intellectual disability. 27465203 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. 25721700 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE Normal levels of the methyl CpG-binding protein 2 (MeCP2) are critical to neurologic functioning, and slight alterations result in intellectual disability and autistic features. 24776956 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 AlteredExpression group BEFREE Maintenance of an appropriate level of MeCP2 appears integral to the function of healthy neurons as patients with increased levels of MeCP2, owing to duplication of the Xq28 region encompassing the MECP2 locus, also present with intellectual disability and progressive neurologic symptoms. 26060191 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. 25914188 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 AlteredExpression group BEFREE Overall, 16p11.2 CNV was associated with altered expression of genes and networks that converge on multiple hypotheses of ASD pathogenesis, including synaptic function (e.g., NRXN1, NRXN3), chromatin modification (e.g., CHD8, EHMT1, MECP2), transcriptional regulation (e.g., TCF4, SATB2), and intellectual disability (e.g., FMR1, CEP290). 24906019 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE Genes with DNMs overlapped with genes implicated in autism (for example, AUTS2, CHD8 and MECP2) and intellectual disability (for example, HUWE1 and TRAPPC9), supporting a shared genetic etiology between these disorders. 24776741 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE We propose that truncating mutations in IQSEC2 are responsible for syndromic severe ID in male patients and should be screened in patients without mutations in MECP2, FOXG1, CDKL5 and MEF2C. 23674175 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE This finding emphasizes the need to consider MECP2 sequencing in females with non-classic Rett phenotypes, particularly those with intellectual disability and neuropsychiatric features. 24328834 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE Many these genes, such as MECP2, are dose-sensitive so that not only deletions and point mutations, but also duplications cause ID. 24458433 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. 25037250 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE The purpose of this study was to investigate the role of evolutionarily conserved cis-elements in regulating the post-transcriptional expression of the MECP2 gene and to explore their possible correlations with a mutation that is known to cause mental retardation. 24040966 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker group BEFREE In conclusion, i) MECP2 is one of the most important genes in the diagnosis of genetic intellectual disability in females; ii) MECP2 must be studied not only in patients with classical/atypical Rett syndrome but also in patients with other phenotypes related to Rett syndrome; and iii) for the new variants, it is important to perform complementary studies, including the analysis of large populations of healthy individuals and the use of in silico programs. 23810759 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation group BEFREE Mecp2 is a transcriptional repressor protein that is mutated in Rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women. 23611944 2013