A Possible Mosaic ARID1A Mutation

When I did my first genome sequence, Dante's standard 30x product, I found an interesting variant in the ARID1A gene. The variant I found is novel and predicted to be pathogenic by most of the algorithms. Pathogenic mutations in ARIAD1A cause Coffin Siris Syndrome, rare developmental disorder. This condition is associated with Autism and has …

Discovering De Novo Variants

It's been ages since my last post. I got sucked into the world of Harry Potter fan fiction and since I was on furlough I didn't have much to draw my attention away from it. It definitely became a perseverative activity that wasn't terribly functional. However I am now back at work and this has …

Sano Genetics Exome Sequencing

In a previous post about Lumminary's Exome Sequencing I said I was going to get tested with Sano as well since I wasn't too happy with Lumminary. There was a bit of a delay in the last stage of the process that I suspect was caused by Covid but the results still came in about …

The Circle DNA Autism Report

My last post was about getting the Circle DNA Test. If you read that post you will know that this test uses Exome Sequencing which covers a great deal more of the genome that tests like 23andme. I have now received the results, actually I received the results over two months ago but it seems …

Getting the Circle DNA test

I just got my sample kit for the Circle DNA test and I just had to write a blog post. The kit is packaged up really nicely in a shiny and black box. You even get a bracelet. My dreadful photo below really doesn't do it justice. I have some reservations about this test, mostly …

MECP2 indels in 23andme data

So back in August I wrote about how I was looking into discovering whether I had anything genetic underlying my Autism and other conditions. In part of my post I talked about finding some variants in my 23andme data that are apparently pathogenic. Since then I have done a fair bit of research and have …

Seeking a Genetic Cause for My Autism

Since I got diagnosed with Autism 6 years ago there has been a significant increase in people getting genetic diagnoses that underly their Autism. As I have additional features often seen in genetic developmental disorders including hearing loss, an underdeveloped lacrimal system and hypertonia, I have begun to suspect that I might have such a …

Mild Is Hard

Mild is having people think because you heard them in one situation, you should be able to hear them in all situations. Mild is having to endure people laughing over your one word responses to social questions. Mild is not having every trait of Autism and having people use that as a reason to say …

ICD-11 Diagnostic Guidelines

In June 2018 the ICD-11 was published. Most sources will point you towards the Mortality and Morbidity Linearisation. This platform lists out all of the different conditions and symptoms with an associated alphanumerical code. Many of the conditions have descriptions and list out synonyms and narrower terms. These descriptions are useful for gaining a high …

Pure and Complex Autism

Autism is a very broad disorder including a large range of people from highly intelligent, articulate but socially awkward individuals to non verbal, intellectually disabled individuals. Under the old diagnostic manuals we had vocabulary to distinguish different groups and this was useful because the needs and expectations of these different groups are different. The articulate …