Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
Rett syndrome
Rett syndrome, preserved speech variant
Mode Of Inheritance:
X-linked
Evaluated Date:
12/16/2020
PubMed IDs:
16630165 15034579 10854091 11214906 12481990 11022934 19034540 10814718 11313756 15857422 10767337 11930274 18989701 10508514 10577905 10737989 10814719 10944854 10991688 10991689 11106359 11245712 11269512 11309679 11313764 11331619 11376998 11462237 11469283 11524737 11738860 11738864 11738879 11738883 11738884 11768391 11913567 11955928
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.