Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
dystonia 5
Dystonia, DOPA-responsive
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
07/22/2015
PubMed IDs:
11359069 10208576 17111153 10732814 11486899 9667588 9576537 7874165 9585358 10078749 11113234 11956954 12023430 12874420 14509676 16289769 17410324 17557242 17804835 17898029 18044725 18345435 18511327 18621497 19533203 19566901 20082337 20108370 20437540 20491893 21834904 21935284 22373569 24018121 24509643 24948553 25119902 25634433 26400349 28087438 28415164 28582483 28958832 29290055 29577080 29948246
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.