• Resources

Useful resources relating to Rett syndrome

This is a collection of resources that users of RettBASE may find of interest, such as information relating to reference sequences for Rett-related genes, and guidelines for mutation nomenclature. Whilst we try to ensure the external links are in order, we do not have control over their content and inclusion of a website/information in RettBASE should not be regarded in any way as endorsement for these sites.

For common reference sequences for MECP2, CDKL5 or FOXG1, see the reference sequences page.

RettSyndrome.org

Formerly the International Rett Syndrome Foundation (IRSF), the RettSyndrome.org is a non-profit organisation established in 2007, through the merger of the International Rett Syndrome Association (IRSA) and the Rett Syndrome Research Foundation.

RettSyndrome.org assists families of individuals living with Rett syndrome by providing them with connections to critical and useful information, programs, services and support from diagnosis to day-to-day-life. RettSyndrome.org also provide funding support for research aimed at producing a cure for Rett syndrome and developing treatments to make the lives of people living with Rett syndrome richer and free of pain and discomfort.

Furthermore, RettSyndrome.org advocates for and raises awareness about individuals with Rett syndrome so the scientific and medical community, policy makers, educators, care givers, and the general public can more thoroughly know, understand, and be motivated to help the research efforts and individuals dealing with Rett syndrome on a daily basis.

International Foundation for CDKL5 Research

The International Foundation for CDKL5 Research (IFCR) was incorporated as a non-profit entity in September of 2009. The idea culminated from a group of dedicated parents of CDKL5 children, who dared to dream of something life changing for their children - a cure.

The parents realized there was a desperate need for education and research, and this could not be completed without funding. They decided to combine their talents and resources to establish a non-profit foundation to help meet these financial needs. IFCR is committed to collaborating with leading scientists and researchers from around the world who are dedicated to finding a cure for CDKL5.

RettSearch.org

RettSearch is an international, multi-center collaborative network of clinically-oriented researchers. Its mission is to promote the development of new therapeutic approaches for Rett syndrome (RTT) by collecting information and pursuing research in areas of relevance to clinical trials in RTT.

International FOXG1 Foundation

The International FoxG1 Foundations mission is to provide hope and support to individuals with FoxG1 and their families via any means possible, to facilitate discussion and fund research within the medical community, and to bring awareness and education to the public.

General information

NA

Online Mendelian Inheritance in Man (OMIM)

MECP2

Rett syndrome (OMIM: #312750)

MECP2 (OMIM: *300005)

CDKL5

Epileptic encephalopathy (OMIM: #300672)

Angelman syndrome-like (OMIM: #105830)

CDKL5 (OMIM: *300203)

FOXG1

Rett syndrome, congenital variant (OMIM: #613454)

FOXG1 (OMIM: *164874)

NA

GeneReviews

MECP2

MECP2-related disorders

MECP2 duplication syndrome

NA

NCBI

MECP2

MECP2 gene entry

CDKL5

CDKL5 gene entry

FOXG1

FOXG1 gene entry

NA

GeneCards

MECP2

MECP2 GeneCard

CDKL5

CDKL5 GeneCard

FOXG1

FOXG1 GeneCard

Other databases

AussieRett was established in 1993 and aims to collect information about all children and adults in Australia with Rett syndrome. InterRett was established in 2002 and collects information about children and adults with Rett syndrome of any age from around the world. InterRett is the first-ever project collecting data on a global basis about Rett syndrome. Funded by the International Rett Syndrome Foundation, this international online database examines the clinical features and genetic characteristics of Rett syndrome. InterRett is playing an invaluable role in:

  • development of partnerships between families and clinicians and in advancing knowledge about Rett syndrome;
  • increasing the clinical understanding of Rett syndrome;
  • providing a new way to help families affected by the disorder, health professionals and the general public learn about Rett syndrome;
  • encouraging collaboration with researchers from around the world.

The aim of the Rett Database Network is to connect existing databases of Rett Syndrome patients in order to create a unified repository of patient clinical and mutational information. It incorporates data from four large national databases on Rett syndrome in Europe: "SYRENE" in France, the "Italian Rett database and biobank" in Italy, the "Barcellona Rett database" in Spain and "BIRSS" (British Isles Rett Syndrome Survey, funded by RSAUK) in the UK. Note: log-in required for access.

Note: MeCP2.org.uk, estabablished in 2003 by Dr Brian Hendrich and Skirmantas Kriaucionis at the University of Edinburgh, is no longer maintained and data is no longer available.

Note: MeCP2.org.uk, estabablished in 2003 by Dr Brian Hendrich and Skirmantas Kriaucionis at the University of Edinburgh, is no longer maintained and data is no longer available.

Note: MeCP2.org.uk, estabablished in 2003 by Dr Brian Hendrich and Skirmantas Kriaucionis at the University of Edinburgh, is no longer maintained and data is no longer available.

Mutation Nomenclature

Guidelines for mutation nomenclature are set out by the Human Genome Variation Society. Please consult their website for the latest recommendations. Commonly-used reference sequences for MECP2, CDKL5 and FOXG1 are listed on the reference sequences page.

We welcome any queries regarding mutation nomenclature for any of our listed variants or other unpublished MECP2, CDKL5 and FOXG1 variants. Please email us at john.christodoulou@health.nsw.gov.au with your questions or comments.

Information regarding general mutation nomenclature: Download

Information regarding complex mutation nomenclature: Download

Mutalyzer is a suite of programs that checks sequence variant nomenclature according to the guidelines of the Human Genome Variation Society. Interfaces include Name Check, Syntax Checker, Position Converter, SNP converter and Name Generator.

Other useful links

This page contains a list of websites providing information about Rett syndrome in different languages.

The GeneTests website provides a portal to search for laboratories offering testing for MECP2, CDKL5, FOXG1 or any other genetic disorder.

The National Organization for Rare Disorders (NORD) is a federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.