Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
Ehlers-Danlos syndrome due to tenascin-X deficiency
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
09/29/2020
Evidence/Notes:
TNXB was first reported in relation to autosomal recessive Ehlers-Danlos syndrome due to tenascin X deficiency in 1997 (9288108: Burch et al. 1997). At least 10 unique variants, both missense and loss of function, have been reported in humans. Evidence ​supporting​​ this gene-disease relationship includes case-level data and experimental data​​. Variants in this gene have been reported in at least seven probands in three publications (26799614: Mackenroth et al. 2015; 27297501: Chen et al. 2016; Demirdas et al. 2017). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. This gene-disease relationship is supported by ​an animal model (11925569: Mao et al. 2002) and rescue experiments (30605228: Aktar et al. 2019). In summary, the TNXB gene​​ is definitively associated with ​autosomal recessive Ehlers-Danlos syndrome due to tenascin X deficiency.
PubMed IDs:
27582382 27297501 26799614 11925569 30605228
Assertion Criteria:
Submitter Submitted Date:
10/15/2020

The GenCC database is currently released under a Fort Lauderdale Agreement for the benefit of the wider biomedical community. You can freely download and search the data, and we encourage the use and publications of validity data for specific targeted sets of genes. However, we ask that you not publish global (site-wide) analyses of these data, or of large gene sets, until after the GenCC flagship paper has been published (estimated to be spring 2022). After the flagship publication, data will be 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 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.