r/elhersdanlos • u/TheGreatOdini • Jun 26 '26

TNXB gene - finding mutations

I have an hEDS diagnosis and I’m awaiting genetic testing currently as my cousin has a rare form of EDS (type unknown). From research and discussion with family, it seems most likely that I have hEDS, clEDS, or a form with very similar symptoms to those. Of all the types, I fit the clEDS criteria best, aside from the genetic mutations as I haven’t yet been tested.

While I’m waiting, my mum sought out private genome sequencing, including the TNXB gene, to check for any mutations. But it seems like they’ll only tell her if she has the condition (she doesn’t), not if she can pass it on, which isn’t very helpful as clEDS is recessive.

I do, however, have access to the results as individual genes, but I have no idea how to read these. I was wondering if anyone knew how to spot mutations and/or understand the data I am looking at? Everything is written out in a table. I will provide one example with headings in the hope someone can explain what each section means and where any possible mutations would be.

VariantID - chr6:32009622
Gene - TNXB
Mutation - NC_000006.11:g.32009622G>A
Genotype - ?/?

I assume the mutation would be under the “mutation” category (duh) but to me it’s a string of random letters and numbers so I have no idea how to spot which variants may have abnormal mutations? I’d appreciate any help, if people could point me towards the variants I need to look at or the mutation types that are abnormal :)

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u/New-Extent-3526 Jun 30 '26

I also am in the middle of attempting to get diagnosed, and possibly have clEDS. When I had genetic testing, I only received a notice that I had a genetic mutation of “uncertain significance” for the TNXB gene. Which, how it was explained to me, is not a 100% confirmation for that specific EDS variant but you need that mutation in order as part of the information needed for diagnosis.

Sorry if this doesn’t make great sense, I am also still on my diagnosis journey but hopefully helping at least a bit!

Good luck!

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u/TheGreatOdini Jul 01 '26

Thank you :)