Study genes and symptoms in ANKRD17-related CAGS
Part of Genetic & congenital clinical trials.
This study looks at how a specific gene change in ANKRD17 relates to the symptoms, brain/scan findings, and brain-cells in people with Chopra-Amiel-Gordon syndrome (CAGS). It may help families understand the condition better and connect gene results to what is seen clinically.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have genetic test results showing a change in the ANKRD17 gene
- That ANKRD17 change is reported as VUS, likely pathogenic, or pathogenic
- If you already have CAGS, your test must show a disease-causing (likely pathogenic or pathogenic) ANKRD17 variant
- If CAGS is suspected, your report should show a VUS ANKRD17 variant plus clinical features of CAGS
- If your ANKRD17 report does not show a disease-causing or potentially disease-causing variant, you cannot join
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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