Note : We are revamping website of RettBASE for better access and display of mutation data. Although maximum care is taken to prevent disruption of data some links make be broken during this process. we apologize for any inconvenience caused.
Welcome to the RettSyndrome.org (formerly the International Rett Syndrome Foundation, IRSF) MECP2 Variation Database (RettBASE), hosted by the Children's Hospital Westmead. Our goal is to gather and curate mutation data related to Rett syndrome, allowing the development of accurate prevalence data for disease-causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype-genotype correlations to be drawn. RettBASE encourages input from researchers, clinicians, families of individuals living with Rett syndrome and the general public, in order to enhance our knowledge and understanding of mutations causing Rett syndrome.
- Mutation databases
- General Information
- How to cite RettBASE
- Submit mutations to RettBASE
- The people behind RettBASE
RettBASE is a freely-available resource for mutation and polymorphism data pertaining to Rett syndrome and other related clinical disorders. Mutation information is collected from published literature and from our collaborators who submit data directly to us. All variant information is manually curated before inclusion in the database. Please see links below on how you can contribute to this database. We also welcome queries regarding mutation nomenclature on any variants listed in our databases or for any unpublished MECP2, CDKL5 or FOXG1 variants.
Please use the current page or http://mecp2.chw.edu.au/ as your bookmark. We appreciate any feedback or suggestions regarding the databases, as well as any changes for the MECP2 search engine. Please inform us of any bugs/broken links encountered.
Please choose the gene and type of search required from the list below.
In the early years after the identification of CDKL5 as a disease gene, patients were often classified as having a more severe form of Rett syndrome, the so-called Hanefeld variant. However, as more individuals with pathogenic CDKL5 variants were identified, it was recognised that individuals with CDKL5 mutations have a clinical picture that is very distinct from Rett syndrome, and most agree that it should be considered to be a distinct clinical entity,widely recognised as the CDKL5 Deficiency Disorder (see: PMID 22872100, 27528505 and 30928302)
Note regarding nomenclature of MECP2 variants: variants are traditionally called from the e2 isoform (translation starting in exon 2). Unless otherwise specified in the nomenclature, all variants in RettBASE are named according to this convention (reference sequence NM_004992). RettBASE has since updated the MECP2 database to include variants in e1 isoform (NM_001110792.1).Users can now change the transcript of interest in list of all variants to view variants in each transcript. The variant and proband pages has also been updated to reflect variant nomenclature in both transcripts. For information regarding reference sequence for MECP2, please visit our reference sequence page. Also please see our nomenclature section for general guidelines for mutation nomenclature. Nomenclature of mutations in exon 3 and exon 4 will differ by 12 amino acids between the two isoforms (e.g. p.R306C or p.Arg306Cys in isoform e2 is equivalent to p.R318C or p.Arg318Cys in isoform e2). cDNA nomenclature will differ by 36 nucleotides.