Ehlers Danlos syndrome with a likely monogenic cause

Gene: TNXB

Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408;Classical-like EDS;clEDS;Ehlers-Danlos syndrome, classic-like type

Created: 18 Mar 2021, 2:07 p.m. | Last Modified: 18 Mar 2021, 2:07 p.m.

Panel Version: 2.50

Green List (high evidence)

This gene has a pseudogene that covers some exons, maybe be possible to get round this during panel design

Created: 3 Apr 2019, 3:44 p.m.

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TNXB; Suggested initial gene rating: green

Created: 3 Apr 2019, 3:41 p.m.

Green List (high evidence)

Green List (high evidence)

Green List (high evidence)

Comment on publications: Cases with classical-like EDS with a variant in TNXB- to date 19 cases (from 15 families) PMID: 11642233,15733269,23768946,27582382,28306225

Created: 12 Apr 2017, 11:37 a.m.

The 2017 International Classification of the Ehlers–Danlos Syndromes Malfait et al., 2017. PMID 28306229. Note there are difficulties in DNA testing due to the presence of the pseudogene (TNXA), which is more than 97% identical to the 30 end of TNXB (exons 32–44). With the only exception of exon 35, which partially shows a TNXB-specific sequence, exon and intron sequences in this region are identical or almost identical in both the gene and the pseudogene. This has implications both for sequencing and deletion/ duplication analysis.

Created: 11 Apr 2017, 12:41 p.m.

Comment on publications: Added publications for evidence of gene-phenotype relationship to reflect current classification of EDS and The Ehlers–Danlos Syndromes, rare types. Malfait et al., 2017 (PMID:28306229), Brady et al., 2017 (PMID:28306225).

Created: 11 Apr 2017, 12:23 p.m.

In relation to the EDS pathogenetic scheme, TNXB belongs to 'Disorders of structure and function of myomatrix, the interface between muscle and ECM'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.

Created: 11 Apr 2017, 12:16 p.m.

This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=TNXB

Created: 11 Apr 2017, 12:15 p.m.

Comment on phenotypes: Amended and updated phenotypes based in OMIM, Orphanet and The 2017 International Classification of the Ehlers–Danlos Syndromes Malfait et al., 2017

Created: 11 Apr 2017, 12:10 p.m.

This is a rare recessive form of EDS

Created: 30 Mar 2017, 10:47 a.m.

Comment on list classification: Hard to interpret sequence data but definitely causes EDS.

Created: 8 Apr 2016, 3:16 p.m.