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: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241 2017
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.880 CausalMutation CLINVAR Functional outcomes in Rett syndrome. 26175308 2016
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		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: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.880 CausalMutation CLINVAR From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079 2016
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		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: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.880 CausalMutation CLINVAR MeCP2 Rett mutations affect large scale chromatin organization. 21831886 2011
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.880 CausalMutation CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487 2011
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation BEFREE Clinicians need to be alerted to the variable presentation of Rett syndrome including the milder phenotypes of cases with the p.R133C or p.R294X mutation. 20815036 2010
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 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: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.880 CausalMutation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030 2009
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 17296936 2007
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation BEFREE A sister with R133C displayed classic RTT. 16122633 2005
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 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: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation BEFREE In the cohort of Angelman-negative patients (N=63), two missense mutations (p.R133C in a female patient and a mosaic p.T158M in a male patient) were found, which have been reported many times in patients with classical RTT syndrome. 14560307 2004
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.880 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: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.880 CausalMutation CLINVAR Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. 15526954 2004
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.880 CausalMutation CLINVAR Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? 12746406 2003
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420 2003
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 12966522 2003
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523 2003
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 11283202 2001
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883 2001
dbSNP: rs28934904
rs28934904
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.880 GeneticVariation UNIPROT Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998 2001