Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
neurodegeneration with brain iron accumulation 5
Neurodegeneration with brain iron accumulation 5
Mode Of Inheritance:
X-linked
Evaluated Date:
01/21/2025
PubMed IDs:
23176820 31466010 30612247 30539914 29981852 29681108 29600274 29171013 29082105 28932395 28551038 28371320 28361255 27957548 27681470 27030146 26790960 26609730 26240209 26022463 30713886 23435086 23647500 24610255 24621584 25044655 27349079 27349085 32307390 32387008 33037762 35005074 37099669
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.