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: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Functional outcomes in Rett syndrome. 26175308 2016
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype. 27255190 2016
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 23810759 2013
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Pubertal trajectory in females with Rett syndrome: a population-based study. 23270700 2013
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR MeCP2 deficiency is associated with impaired microtubule stability. 23238081 2013
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. 23452848 2013
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.760 GeneticVariation BEFREE In classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X). 23035069 2012
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. 21764336 2011
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR R270X is one of the most frequent recurrent MECP2 mutations among RTT cohorts. 20625242 2010
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). 17914728 2007
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.760 GeneticVariation BEFREE A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). 17914728 2007
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305 2006
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 16183801 2006
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.760 GeneticVariation BEFREE Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome. 16077729 2005
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome. 16077729 2005
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.760 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703 2005
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. 12872250 2003
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.760 GeneticVariation BEFREE We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. 11896459 2002
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. 11896459 2002
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.760 GeneticVariation BEFREE Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X). 11738872 2001
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. 11524741 2001
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719 2000
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898 2000
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.760 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718 2000