MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Rett Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241 2017
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		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: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		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: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645 2015
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		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
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR MeCP2 deficiency is associated with impaired microtubule stability. 23238081 2013
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. 23770565 2013
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487 2011
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. 21372149 2011
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro. 20093853 2010
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation BEFREE Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients. 19309269 2009
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation BEFREE RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. 19133691 2009
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation BEFREE Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome. 18174559 2007
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578 2007
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation UNIPROT Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 17296936 2007
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305 2006
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 16183801 2006
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation BEFREE Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV). 15737703 2005
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. 15526954 2004
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.870 CausalMutation CLINVAR Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. 15173251 2004
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420 2003
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523 2003
dbSNP: rs28935468
rs28935468
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.870 GeneticVariation UNIPROT Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 12966522 2003