GeneChat

Ehlers Danlos Pathogenic snps?


#1

Do any of you have these gene mutations

ADAMTS2
COL12A1
COL1A2
COL3A1
COL5A1
COL5A2
DSE
PRDM5
ZNF469

Also, I created and shared a Template named “Ehlers Danlos Pathogenic……” which included 50+ SNP RS’s and I researched from a 2017pubmed document the inheritance patterns, intending to not include any that aren’t applicable.

Best,
Christine


#2

thank you for sharing this. I got tested to 23andMe about 2 years ago and got diagnosed with EDS a few months ago. I remembered livewello site this morning and got on here to try to see if I have the genetic markers for the other types of EDS I was not diagnosed for and sure enough I have some +/+ or +/- on almost every single one on your template. I still haven’t quite figured out what that means yet as I am new to this and unsure if all of these are always positive for EDS or just what “could” be, though it looks like your intent was only to screen for the ones that are associated with EDS. I have done quite a bit of Gene studying in the past for my other gene mutations, but am very new to EDS. Thank you for doing this work and sharing the template.


#3

I was never diagnosed with Ehlers Danlos Pathogenic, but I tried your template and it seems that I have a number of gene mutations (as well as multiple genes in the yellow) associated with it…I am prone to tendonitis and I have problems with my joints though.

rs4706592 cc

rs946053 TT

rs10858286 TT

rs13288677 GG

rs3124300 GG

rs9410002 AA

rs2390054 GG


#4

Hello Untamedmontana,

I am trying to understand if all of the SNP’s I put into this template are pathogenic for the different EDS subtypes. I have hunted high and low to try and find these. Can I share my mutations with you? Or can we compare? I need to get in to see a geneticist.

What kinds of symptoms do you have?

Christine


#5

Hello RjoyD,
I’ll take a look at my snps too and see if I have any similar to yours, looks like you listed just the homozygous (red) mutations.

-C


#6

Christine, those are genes, not SNPs. Dawn


#7

Hi Dawn and All, Here are the Genes and corresponding SNPs, all homozygous:


#8

Here’s mine. Can you tell me what I’m looking at? I’m not officially diagnosed but I clinically meet the criteria for heds. As do many members of my family. I have an appointment in July to get the official diagnosis and I have several family members that will be getting their official diagnosis next month. I have a feeling we met have classical or classical like as well.

So which of these are definitely linked to EDS?
https://livewello.com/snps/share?index=1553145205&id=4827066907492352


#9

I looked all of those variants up an they are all common variants. They ARE all variants of those genes, however they are not “disease causing” variants.