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 … Continue reading A Possible Mosaic ARID1A Mutation

An Inherited KBTBD13 Variant

This post follows on from two previous posts; Unusually Tight Muscles and I might have myopathy. I suggest you read those first if you haven't already. In the second of those posts I discussed a variant I found in the KBTBD13 gene that could be a potential cause of my muscle symptoms. Since then I have … Continue reading An Inherited KBTBD13 Variant