Hi. I am a master student in medical genetics in “Tabriz university of medical sciences” in “Iran” Im looking for a research partner to communicate and even writing paperes to raise our knowledge. Here is the list of my interested topics Medical genetics Cancer genomics Reproductive genetics Infertility Gene therapy Pharmacogenetics Personalized medicine Epigenetics Neurogenetics

Hi. I’ve recently become aware that a couple of deviations I have might be connected to this syndrome, albeit a mild version because the facial attributes aren’t very severe. Would love to hear more opinions if this seems likely or any other suggestions?

I have

• Skin tag in front of right ear
• Underdeveloped outer rim on both ears (looks like Stahl’s ear)
• Very flat and low set cheeckbones. Right one being more ”compressed”
• Right side of jaw being higher up than left one
• A ridge on top of the skull (saggital craniosyntosis?)
• Moderately severe scoliosis (40 degrees)
• A couple of autism-like traits but nothing diagnosed

My son is two and about six months ago we did genetic testing to rule out underlying genetics causing health issues. They discovered a few different things. This entire sequence deletion was their biggest concern. We are still waiting to hear back from the genetics counselor provided and I just wanted to see if anyone here knew what I might be able to expect. The full information they gave us is "entire coding sequence deletion of EIF2B2, heterozygous, pathogenic"

My 31mo son was diagnosed with a TLK2 de Novo mutation at 6w. He was in NICU due to other anatomical GI issues but with series of tests done that was found.

We f/u with genetics annually but I am struggling to find any research articles on much about it aside from the severe developmental delays. He has been in therapies since he was 8w and I am so happy of the progress he has been making with his gross motor skills, and since getting tubes in his ears nearly 5m ago his speech is coming along.

I also have a 18mo who doesn't have any health complications who I know for certain is challenging my eldest in healthy competition.

I just can't find any research with patients who are at his end of the spectrum of delays...and I'm not sure if this is good or bad? IDK I just would really like to know more about parents and caretakers experiences as well as a little more in depth of what a TLK2 mutation is in lamens terms.

TIA

Does anyone know anyone who has been diagnosed with salla disease? I know there are lots of cases in Finland and Sweden but it is rare in the UK

Hi, first of all, this group has been so helpful to me in this terrible time, after two failed pregnancies, we decided to get tested and recently found out that I'm a carrier of a balanced Robertsonian translocation of chromosomes 13:14, Age-28. I was devastated with this news... My last pregnancy loss was also due to the baby being a carrier of this condition. I'm wondering if anyone here is also a carrier of this translocation and has tried IVF with successful results? Or has anyone with this condition had a healthy pregnancy without IVF? I would really appreciate hearing your experiences and any advice you have. Thank you all in advance!

I really hope that its okay to post this question 🙏🏻

I have succeeded in getting hold of the data files from a recent genetic test. There's a specific frameshift variant that I hope someone can (and will) help me with as I can't wrap my head around why it has been dismissed 🙏🏻

chr12 121626865 GGCCCC/G (AC=2;AF=1.00;AN=2;DP=37;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=27.50;SOR=1.547 GT:AD:DP:GQ:PL 1/1:0,36:36:99:1615,108,0)

I know a lot of labs are offering paired DNA and RNA sequencing specifically for oncology/cancer focused gene panels. I understand how/why this helps with things like variant interpretation/resolution. My question is, why does this seem to be limited to oncology/cancer genetics? Would RNA sequencing not also be similarly useful when paired with WGS/WES?

I posted here before about my child’s geneticist investigating for Beckwith Wiedmann Syndrome, and you all were super helpful so I’m here again!

Original post: https://www.reddit.com/r/ClinicalGenetics/s/2ktUoZmvht

As an update, we finally went for follow-up today and we did the CMA and methylation test.

The geneticist mentioned that with the CMA, we could end up with ambiguous results. The idea of this makes me really nervous - I’m already a hypochondriac and this whole process has made me anxious. I’m trying to tell myself that we’re just doing our due diligence and following the doctor’s recommendations.

Now the idea of possibly receiving an “uncertain” finding has me wondering if I’m just opening doors we shouldn’t and driving our family down a road that could lead to more anxiety.

Can anybody shed some more light on CMA, and how often uncertain results occur? Should we have done this test?

I hope this is ok to ask - it kinda falls under the low stakes "cilantro gene" kind of thing (maybe).

Despite having a wide-ranging palate (and no issues with cilantro), I have a strong revulsion to cooked eggs of any kind. (They fine as part of recipe, where their presence isn't something I can taste like pancakes or muffins but french toast is hit or miss. I used to eat eggs straight as a child but as time went by it was harder to eat them as they make me physically nauseous. I stopped eating them completely around age 5.

I thought it was just a me thing and had never met anyone else with this issue. Cause frankly, it sucks and it makes me seem fussy which I'm not. But a few years back, I took my 82-year-old mom out for breakfast and kept pushing her to get an omelette rather than oatmeal as she'd lost too much weight recently. After much pushing, she finally admitted she doesn't eat eggs, doesn't like eggs and in fact, I had never seen her eat an egg in her life. This was a shock as she'd never mentioned it to me or my sisters, who absolutely did not believe me when I shared this new info with them, as Mom had kept this so close to the vest all those years. My sisters both like and eat eggs regularly - my mom and I are the only ones who don't like them and can't eat them (straight) without feeling physically sick.

So, genetics experts, I come here humbly to ask: is there a gene that makes eggs taste disgusting?

If there is a known rare genetic mutation in the family line related to bipolar or schizophrenia risk for example, why is it still illegal to screen embryos for this in the UK? My understanding is that PRS embryo screening is currently illegal in the UK, which I understand, but why is it illegal in the case where there is a single genetic mutation in the family related to mental illness? I appreciate any clarity.

Hello,

If anyone can please help me:

I found out my daughter has hbh disease through an amniocentesis.

I am a carrier of alpha thal and my husband is a silent carrier.

We were told she is missing three genes.

is this considered deletional hbh disease Also, if you have it please let me know your experience.

How is your life?

Do you have kids?

Did you develope bones like normal?

Did you get to play sports?

Please help.

Hi,

I had a stillborn baby at 20 weeks, 2 days. Just got the preliminary autopsy results. Says “no significant congenital developmental anomalies present”. But then it says that the final autopsy report will include microscopic examination with “molecular genetics testing”.

Pls, someone tell me bluntly what this means. Are the major syndromes ruled out (turners, Down syndrome, etc)? What will the additional molecular genetics testing rule out, if there were already “no congenital developmental anomalies identified”?

Confused.

Hi guys! I want to spread the word on this.

I have epitheliod hemangioendothelioma, stable for 3 years on Sirolimus.

The EHE Foundation has initiated a study in collaboration with Xcures, a company working with FDA to collect data on various treatments for rare cancers. They get patient records from the providers or patient to analyze all variables in patients treatments. (There are disease specific registries or you can create your own)

From their document upload page: “you may also directly upload any records that you have on hand. In particular, we are hoping to obtain records that provide information about your current and historical cancer diagnoses, procedures, and treatments; your cancer’s molecular alterations and pathology; the extent and status of your disease; and your current health and pain levels. Your most recent clinic note (e.g., from your treating oncologist) is a great source of such information.

Thanks for reading! Link in the comments if you’re interested

Hey everyone,

I'm looking to get the results of my genotype and phenotype, along with a DNA health test that covers:

• Genetic vulnerability to health conditions
• Whether I'm a carrier of monogenetic hereditary diseases
• My pharmacological compatibility with various medications

As a bonus, I'd love to know my personal traits from an ever-growing list, such as eye clarity, skin pigmentation, sleep duration, cognitive ability, blood clotting, photic sneeze reflex, and even the relationship between my genetics and height, among others.

I'm also really interested in a wellness DNA test to get nutritional info like:

• Lactose intolerance
• Vitamin and cholesterol levels
• Celiac disease
• How I metabolize various substances I'm exposed to in daily life

And also info relevant to sports:

• Performance
• Muscle recovery
• Tendinopathies
• BMI, and much more

Lastly, I’d love some insights into the bioavailability of foods and which foods I might be insensitive to.

I’ve heard about 23&Me, Tellmegen, and Macromo, but I'm unsure which is best for me, considering I live in Central EU. Has anyone tried one of these or can recommend one? Would really appreciate your thoughts!

Thanks in advance for any help!

Hello,

My husband and I started the process of IVF last year. As we went through the testing, we discovered that my husband has the pre-mutation for Fragile X. We decided that we would transfer male embryos to prevent passing this on. We didn’t anticipate it would take us a year to get viable embryos.

Today we found out that our first and only two euploid embryos are girls. As I understand it, my daughter would be a carrier for Fragile X, potentially have fertility issues, and potentially a child with Fragile X. Would it be selfish to transfer one of these embryos? If/when she wants to have children, what counseling would she need? Are there other health effects that I am not considering?

Thank you for your input. I apologize if this isn’t the right forum for this type of question- my mind is just racing.

Hi there,

I’m wondering if someone out there can help me understand or point me in the direction of where I can find more information about a variant of unknown significance? I’m 20 weeks pregnant and had an amnio done as a precaution because I had a TFMR earlier this year due to T21. Everything in this pregnancy has looked good so far, but I did the amnio just for what I thought would be peace of mind. I just got the results back and they state that the baby (boy) has a 1.7 mb microdeletion of 18p.11.32. Of course, my MFM is closed right now so I can’t contact them for more info, but I’m sure I’ll hear from them tomorrow, and I know next steps will be to test my husband and I. But in the meantime I’m wondering if anyone out there can give me more info on how baby could be affected. There isn’t a whole lot out there on google. Thanks in advance

So it would seem there doesn't really seem to be ACMG guidelines for classifying mt-DNA variants? The variant in question has a clinvar submission that uses modified tRNA ACMG (unpublished) guidelines. Does this basically mean the lab which submitted created their own classification guide? there are no computer modelling tools included? I don't get how this is appropriate?

Hi, Can somebody please point me in the right direction regarding where to find papers (or a website) where I can find information related to calculating probabilities of a variant being disease causing based off of various in silico tools? I am also trying to find data regarding to the correlations between them all.

Regards,

Hello fellow nerds. have a quick question, my daughter (9yo) was born with cong. hypothyroidism. she has responded to t4 therapy very well but something has come up on her labs for the last year thats troubling me. her tsh seems to have uncoupled from t4 t3 levels, meaning her tsh is very high even tho both t3 and t4 and both top range. her doctors have no clue why or what this means but it is making me worried. thru some digging i want to start ruling out some possibilities. i want to test mthfr and also rs225014 to rule out a Dio2 mutation. any other tests you guys can think of? ive checked mine and my wifes raw data from 23andme, both of us are TT for that snp. which is the normal base pair it seems. if that is the case is there any need to test my daughter? is there anyway she can be CT or CC if BOTH parents are TT?

lastly it seems people are quite skeptical of 23andme on here, may i ask why? ive seen some people here say they are not reliable, does that mean in the sense that the results could be wrong? if so, is there a consensus of another company that is preferable to use?

appreciate the time ty

I had a NT measurement of 4.7 at 12 weeks 3 days. Since then I have had a negative/normal FISH, microarray and Vistara blood work (to look for Noonans.) My GC said that if the 16 week ultrasound is clear of any major abnormality she would not recommend a WES unless we really want one. Is a WES something that could be beneficial? I am worried about missing something down the road. Does anyone know the statistics surrounding conditions picked up by the WES (related to high NT) after the above tests were normal?

If two siblings were to marry two first cousins, the children from each couple would be both first and second cousins. What percentage of DNA would be shared between these children? Would they be much more likely to look alike than if they were only first cousins?

Hello,

I was wondering if somebody could tell me/confirm that this means the specimen this came from is SRY positive, but likely very low level mosaicism. TIA

https://preview.redd.it/3xtci7kpptsd1.jpg?width=2880&format=pjpg&auto=webp&s=6c48440fba90e0fb73eeb1d69d3dd4603fa14439