Submitting Mutations to RettBASE

We are grateful to our collaborators, who donated their time and effect to provide us with a significant proportion of the data that you see in RettBASE. We encourage submissions from research groups, diagnostic laboratories, doctors/clinicians and counsellors. Please choose one of the formats below to submit your data.

Found a published mutation that we've missed or recently published a variant that we should upload? Send us an email at

3. (Optional) Download the ID generator file (Excel spreadsheet) and follow the instructions within : Sample ID generator

The sample ID generated is used to protect patient anonymity and to avoid multiple entries of the same patient. It also links any entries in this database with the corresponding ones in the clinical database (InterRett). If this optional step is not completed, the curator will create a sample ID using the proband details.

4. Return the completed forms to us by email

N.B. Our direct online submission system is currently down. Previously registered users, please follow the steps outlined above to submit your data. We apologise for any inconvenience caused.


Due to security reasons, email addresses have been removed from this list. If you have a query regarding a particular mutation and would like to get in touch with one of our collaborators, please contact us (at and we can redirect your query.

Dr Kristen Hoffbuhr
Research Center for Genetics Medicine
Children's National Medical Center
Washington DC 20010 USA

Dr David Bunyan
Wessex Clinical Genetics Laboratory
Salisbury District Hospital
Salisbury Wiltshire SP2 8BJ UK

Dr Maria Luisa Uzielli

Associate Professor Alessandra Renieri
Dept of Medical Genetics
University of Siena
Policlinico Le Scotte
viale Bracci 2
53100 Siena Italy

Mark Davis
Neurogenetics Unit
Department of Anatomical Pathology
Royal Perth Hospital
Perth, Western Australia

Dr. Nancy Carson
Head, Molecular Genetics Diagnostic Laboratory
Children's Hospital of Eastern Ontario
Ottawa, ON, Canada

Judith Armstrong
Genetics Section, Hospital Sant Joan de Deu
Av. Sant Joan de Deu 2
E-08950 Esplugues (Spain)

Hayley Archer, Julie Evans, Sharon Whatley, Angus Clarke
Cardiff, UK

Bradford Coffee
Department of Human Genetics
Emory University School of Medicine
Atlanta, GA 30033

Carolyn Schanen
Head of Human Genetics Research
Nemours Research Programs
Alfred I duPont Hospital for Children
1600 Rockland Road, H3B-337
Wilmington DE 19803

Pascale Hilbert
Institut de pathologie et de genetique

Michael Friez
Molecular Diagnostic Laboratory
Greenwood Genetic Center
One Gregor Mendel Circle
Greenwood, SC 29646

C. Ellaway
Children's Hospital Westmead
Westmead, Sydney, AUSTRALIA

M. Maisenbacher
UF Pediatric Genetics
University of Florida
Gaindesville, FL, USA

K. Monaghan
Medical Genetics, DNA Diagnostic Laboratory
Henry Ford Hospital
Detroit, MI, USA

M. Aaron
Southwestern Memorial Hospital
Weatherford, OK, USA

P. Lorenz
Mitteldeutscher Praxisverbund Humangenetik
Dresden, Germany

R. Khajuria
Genetics Unit, Dept. of Pediatrics
All India Institute of Medical Sciences (AIIMS)
New Delhi, India

A. Percy
Departments of Pediatrics, Neurology, Neurobiology and Genetics
University of Alabama
Birmingham, AL, USA

S. Das
Department of Human Genetics
University of Chicago
Chicago, IL, USA