Gene: MECP2 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748389
rs61748389
MECP2
0.720 GeneticVariation BEFREE An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. 30569584

2019
dbSNP: rs267608454
rs267608454
MECP2
0.720 GeneticVariation BEFREE Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation. 29428602

2018
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. 28920956

2017
dbSNP: rs28934907
rs28934907
MECP2
0.840 GeneticVariation BEFREE Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. 28920956

2017
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE Lower doses of this vector significantly extended the survival of mice lacking MeCP2 or expressing a mutant T158M allele but had no impact on RTT-like neurological phenotypes. 28497075

2017
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE Together, these findings demonstrate that increasing MeCP2 T158M protein expression is sufficient to mitigate RTT-like phenotypes and support the targeting of MeCP2 T158M expression or stability as an alternative therapeutic approach. 28394263

2017
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines: human embryonic stem cell (hESC) line carrying the common T158M mutation (<i>MECP2<sup>T158M/T158M</sup></i> ), hESC line expressing no MECP2 (<i>MECP2-KO</i>), congenic pair of wild-type and mutant RTT patient-specific induced pluripotent stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editing (V247fs-MT-correction). 28270572

2017
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation BEFREE To model RTT in vitro, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of two RTT patients with different mutations (MECP2 (R306C) and MECP2 (1155Δ32)) in their MECP2 gene. 27379379

2016
dbSNP: rs61751364
rs61751364
MECP2
0.770 GeneticVariation BEFREE To model RTT in vitro, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of two RTT patients with different mutations (MECP2 (R306C) and MECP2 (1155Δ32)) in their MECP2 gene. 27379379

2016
dbSNP: rs61749738
rs61749738
MECP2
0.010 GeneticVariation BEFREE In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. 27062609

2017
dbSNP: rs61751444
rs61751444
MECP2
0.720 GeneticVariation 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
dbSNP: rs61751367
rs61751367
MECP2
0.710 GeneticVariation 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
dbSNP: rs267608591
rs267608591
MECP2
0.710 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016
dbSNP: rs267608595
rs267608595
MECP2
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016
dbSNP: rs63390262
rs63390262
MECP2
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016
dbSNP: rs782460882
rs782460882
MECP2
0.010 GeneticVariation BEFREE We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. 26755454

2016
dbSNP: rs28934906
rs28934906
MECP2
0.900 GeneticVariation BEFREE We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. 26647311

2016
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation BEFREE We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. 26647311

2016
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation BEFREE We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. 26647311

2016
dbSNP: rs61751364
rs61751364
MECP2
0.770 GeneticVariation BEFREE We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. 26647311

2016
dbSNP: rs28934904
rs28934904
MECP2
0.880 GeneticVariation BEFREE The results are in agreement with previous experimental studies and further provide atomic level understanding of the molecular origin of RTT associated with R133C variant. 26064184

2015
dbSNP: rs267608454
rs267608454
MECP2
0.720 GeneticVariation BEFREE Therefore, we decided to characterize a novel MeCP2 phospho-isoform (Tyr-120) whose relevance was suggested by a Rett syndrome patient carrying a Y120D substitution possibly mimicking a constitutively phosphorylated state. 25527496

2015
dbSNP: rs786205045
rs786205045
MECP2
0.710 GeneticVariation BEFREE Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype. 23866855

2013
dbSNP: rs61748404
rs61748404
MECP2
0.810 GeneticVariation BEFREE This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome. 23859859

2013
dbSNP: rs28935468
rs28935468
MECP2
0.870 GeneticVariation BEFREE In knock-in mice bearing the common human RTT missense mutation R306C, neuronal activity fails to induce MeCP2 T308 phosphorylation, suggesting that the loss of T308 phosphorylation might contribute to RTT. 23770587

2013