Submission Details


Ehlers-Danlos syndrome due to tenascin-X deficiency
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
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:

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